Preface Causes of Disrupons in Children’s Growth

Scienfic Evidence Advancements in technology, clinical research, and high speed informaon sharing have collecvely facilitated the discovery of an unprecedented amount of informaon pertaining to the c causes of children’s growth failure, overgrowth or other growth irregularies. For decades, sciensts have been mapping out the millions of human genec details in discovery. During this process they idenfied diseases/syndromes which are apparent in a child who displays all of the characteriscs (“classic” form) of that syndrome. Other children may have the same syndrome but in a “paral” form. There are typically mulple variees of the paral forms. It is a complicated discovery and cataloguing process which connues to this day. The variaon of characteriscs within each syndrome means that growth irregularies may be the result of a variety of mechanisms. As you will note in the categories within this document, some children have issues which are (non-syndromic) and do not yet have a “name” but have a list of characteriscs of which growth is listed as a condion. Therefore, those “un-named” syndromes are listed in the Alphabecal list contained herein. What does this increase in knowledge do for families and growth affected children? Potenally, genec explanaons can afford physicians an opportunity to idenfy causes for growth failure or overgrowth at a much younger age. If treatments are available for the idenfied medical cause, iniang therapies as soon as possible could change the child’s future and health for his/her enre lifeme. Changing Public Misconcepons There are many assumpons surrounding children’s growth. It is generally believed that if we “wait and see” … a child who is small will eventually catch up to his/her peers. The opposite side of growth issues pertains to a child who is exceponally tall for his/her age, parcularly if the child is male. Parents and other caregivers oen consider overgrowth as a “benefit” rather than a health warning. As a major sign of health, a child’s growth paern is NOT simply a cosmec or appearance issue. Children’s growth should be checked annually and regarded with serious consideraon. NO irregular growth (too much or too lile) is safe for children if it is caused by a hidden medical issue.

ICOSEP is a coalion of paent organizaons represenng various “growth” condions. Governments, medical sociees and others have endorsed and supported ICOSEP and our educaonal iniave. We have one goal: to share a simple truth about children’s growth so that children throughout the country may be idenfied with enough me to intervene for their best lifeme of health. Join us! Each year, on September 20th, we share one message via our annual Children’s Growth Awareness educaonal iniave. Materials are downloadable and free for this campaign use. Visit: hp://icosep.org and click the Growth Awareness Day tab for more details.

Table of Contents 2 Secon 1 Alphabezed list of Medical Condions Impacng Children’s Growth Page 4-109 Secon 2

Itemized Summary Search Lists for: Decreased Serum IGF-1 Associated Diseases Page 109 IGF-1 Diseases Page 109 Disproporonate Short Limb Associated Diseases Page 110-115 Disproporonate Diseases Page 116-122 Disproporonate Short Trunk Short Stature Page 122-123

Dysplasia’s Page 123-126 Proporonate Short Stature Associated Diseases Page 125-130 Growth Hormone Deficiency Page 130-133

Growth Hormone Deficiency (Monarch search example) Page 133-138 Secondary Growth Hormone Deficiency Page 138-139 Pituitary Dwarfism Associated Diseases Page 139 Growth Hormone Excess Page 140 Precocious Puberty Page 141-150 Secon 3 Cross-referenced Master List with URL Informaon and Notes Page 151-432 Secon 4 Alphabezed Resources Page 432-434 Legal Noce Page 435

3 Alphabezed List of Growth Impacng Diagnoses Contains all syndrome/condion names (including AKA names from the detailed list in Secon 3).

1 10q Duplicaon 2 10q Trisomy 3 12q Duplicaon 4 12q Trisomy 5 13q Deleons (various) Overview 6 14q Deleons Between 14q22 and 14q32 7 14q Deleons Proximal to 14q22 8 14q22q23 Microdeleon Syndrome 9 15q13.3 Microdeleon Syndrome 10 16p13.11 Microdeleon Syndrome 11 17p13.3 Microduplicaon Syndrome 12 17q Deleon 13 17q Monosomy 14 17q11 Microdeleon Syndrome 15 17q11.2 Microduplicaon Syndrome 16 18q Deleon Syndrome; Deleons from 18q11.2 to 18q21.2 17 19 XLMR 18 1p36 Deleon Syndrome 19 1q Duplicaon 20 1q Trisomy 21 1q21.1 Deleon Syndrome 22 1q21.1 Microdeleon 23 1q21.1 Microduplicaons 24 1q24q25 Microdeleon Syndrome 25 1q41-q42 Deleon Syndrome 26 1q41-q42 Microdeleon Syndrome 27 1-Spondylometaphyseal Dysplasia - Sutcliffe Type 28 20p12.3 Microdeleon Syndrome 29 21q Deleon Syndrome

4 30 22q11.2 Deleon Syndrome 31 22q13 Microdeleon Syndrome 32 22q13.3 Deleon Syndrome 33 2-Spondylometaphyseal Dysplasia Axial 34 3C Syndrome 35 3M Syndrome 36 3MC Syndrome 37 3-Methylglutaconic Aciduria Type II 38 3p Deleon 39 3p Duplicaon 40 3p Monosomy 41 3p- Syndrome 42 3p Trisomy 43 3q26.33-3q28 Microdeleon 44 3-Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type 45 4 H Syndrome 46 4p Deleon 47 4p Monosomy 48 4q Deleon Syndrome, Paral 49 4q Monosomy 50 4q28.1 51 5p Monosomy 52 5p Paral Monosomy Syndrome 53 5p Syndrome 54 5p13 Microduplicaon Syndrome 55 6-Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 56 8p Inverted Duplicaon/Deleon Syndrome 57 8p- Syndrome, Paral 58 8q Deleon 59 8q Monosomy 60 8q13 Microdeleon Syndrome 61 9p Paral Monosomy 5 62 9p13.3-p13.1 Intersal Deleon 63 9q Deleon 64 9q Monosomy 65 Aarskog Syndrome 66 Aarskog-Like Syndrome 67 Aarskog–Sco Syndrome 68 Aase-Smith Syndrome II 69 Abetalipoproteinemia 70 Ablepharon Macrostomia Syndrome 71 Abnormal Facies, Mental Retardaon, Ectomorphic Habitus 72 Abruzzo-Erickson Syndrome 73 Absence of Septum Pellucidum 74 Absence of Ulna and Fibula with Severe Limb Deficiency 75 Absent Thumb-Short Stature-Immunodeficienty Syndrome, TAR 76 Achalasia-Adrenal-Alacrima Syndrome 77 Achalasia-Microcephaly Syndrome 78 Type II 79 Achondroplasia and Severe Combined Immunodeficiency, Short-Limb Skeletal Dysplasia 80 with Severe Combined Immunodeficiency 81 Achondroplasia so-called and Severe Combined Immunodeficiency 82 Acquired GHD 83 Acquired Hypothyroidism 84 Acral Renal Ectodermal Dysplasia Lipoatrophic Diabetes 85 Acrocallosal Syndrome 86 Acrocallosal Syndrome, Schinzel Type 87 Acrocapitofemoral Dysplasia 88 Acrocephalopolysyndactyly, Type 4 89 Acrocephalo-Syndactyly Type 1 90 Acrocraniofacial 91 Acrodental Dysostosis of Weyers 92 Acrodysostosis

6 93 Acrodysplasia, Ossificaon Abnormalies, Short Stature, Fibular Hypoplasia 94 Acrofacial Dysostosis, Catania Type 95 Acrofacial Dysostosis, Cincinna Type 96 Acrofacial Dysostosis, Rodriguez Type 97 Acro-Fronto-Facio-Nasal Dysostosis, Type 1 98 Acro-Fronto-Facio-Nasal Dysostosis, Type 2 99 Acromegaloid Features, Cus Vercis Gyrata, Leukoma 100 Acromegaly 101 Acromesomelic Chondrodysplasia, Genital Anomalies 102 Acromesomelic Dwarfism, Ferraz Type 103 Acrometageria 104 Acromicric Dysplasia 105 Acro-Osteolysis 106 Acrorenal Field Defect, Ectodermal Dysplasia, and Lipoatrophic Diabetes 107 Acrorenal Mandibular Syndrome 108 Acro-Renal-Uterine-Mandibular Syndrome 109 ADA Deficiency 110 Adams-Oliver Syndrome 111 Adams-Oliver Syndrome 2 112 Adams-Oliver Syndrome 5 113 Adenosine Deaminase Deficiency 114 Adenosine Deaminase Deficient Severe Combined Immunodeficiency 115 Adenylosuccinase Deficiency 116 ADMIO1 ADNP-Related Mulple Congenital Anomalies-Intellectual Disability-Ausm Spectrum 117 Disorder 118 ADRA1B 119 Adrenal Hyperplasia I 120 ADRENAL HYPOPLASIA, CONGENITAL 121 Adrenal Hypoplasia, Gonadotrophin Deficiency, Deafness 122 ADSL Deficiency 123 AEXS

7 124 AFD Catania Type 125 AFFN Dysostosis 1 ( AFFND1) 126 AFFN Dysostosis 2 (AFFND2) 127 AGA Deficiency 128 Agammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked 129 AGL Deficiency 130 AHC 131 AHDC1 (gene Mutaons) 132 Aicardi Goueres Syndrome 4 133 Aicardi Syndrome 134 Al Awadi Rass Rothschild Syndrome 135 Al Gazali Khidr Prem Chandran Syndrome 136 Alagille Syndrome 137 Alaninuria, Microcephaly, Dwarfism, Diabetes 138 Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome 139 Alazami Syndrome 140 Albright Hereditary 141 Albright Hereditary Osteodystrophy-Like Syndrome 142 Albright Hereditary Osteodystrophy-Like Syndrome, PRMT7 Mutaons 143 Albright Syndrome 144 Aldoa Deficiency 145 Aldolase A Deficiency 146 Al-Gazali Syndrome 147 Alkuraya Syndrome 148 Alkydihydroxyacetonephosphate Synthase Deficiency 149 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 150 Alpers-Huenlocher Syndrome (AHS) 151 Alpha Thalassaemia-Mental Retardaon, X-Linked 152 Alpha Thalassemia X-Linked Intellectual Disability Syndrome 153 ALPHA-1B-ADRENERGIC RECEPTOR 154 Alpha-2-Deficient Disease 155 Al-Raqad Syndrome

8 156 Alstrom Syndrome 157 Alves Syndrome 158 Amaurosis Congenita of Leber 1 159 Amblyopia, Mental and Growth Retardaon 160 Aminopterin/Methotrexate Embryofetopathy, Fetal Aminopterin Syndrome 161 Ampola Syndrome 162 Andersen Cardiodysrhythmic Periodic Paralysis 163 Andersen-Tawil Syndrome 164 Andre Syndrome 165 ANDROGEN RECEPTOR 166 Anemia, Congenital Dyserythropoiec, Type 1b 167 Anemia, Dyserythropoiec, Congenital Type 1 168 Anemia, Sideroblasc, Pyridoxine-Responsive, Autosomal Recessive 169 ANES 170 Angel Shaped Phalangoepiphyseal Dysplasia 171 Angelman-Like Syndrome 172 Angelman-Like Syndrome, X-Linked 173 Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome 174 Ankyloblepharon Filiforme Adnatum 175 Ankyloblepharon, Ectodermal Dysplasia, Cleing 176 Anodona-Hypotrichosis Syndrome Anophthalmia, Clinical, with Mild Facial Dysmorphism and Variable Malformaons of the 177 Lung, Heart, and Diaphragm 178 Antenatal Barer Syndrome Type 1 179 Anterior Chamber Cleavage Disorder, Short Stature, Mental Retardaon 180 Antley-Bixler Syndrome 181 Apert Syndrome 182 Apert-Crouzon Disease 183 Aphalangia Paral with Syndactyly and Duplicaon of Metatarsal IV 184 Aplasia Cus Congenita with Epibulbar Dermoids 185 Apparent Mineralocorcoid Excess 186 Apple Peel Intesnal Atresia

9 187 AR 188 Arachnodactyly, Contractural Beals Type 189 Aredyld Disease 190 Armfield X-Linked Mental Retardaon Syndrome 191 AROMATASE DEFICIENCY 192 AROMATASE EXCESS SYNDROME 193 Arterial Calcificaon of Infancy 194 Arteriosclerosis, Severe Juvenile 195 Arthrogryposis 196 Arthrogryposis Mulplex Congenita-Whistling Face Syndrome 197 Arthrogryposis, Distal, Type 5d 198 Arthromyodysplasia, Dyscephaly, Sacral Agenesis, and Hypoplasc Digits 199 Arts Syndrome 200 Arylsulfatase E Deficiency 201 Aspartylglucosamidase (AGA) Deficiency 202 Asphyxiang Thoracic Dystrophy 4 203 Asphyxiang Thorasic Dystrophy 3 204 Asthma, Short Stature, and Elevated IGA 205 Astley-Kendall Dysplasia (syndrome) 206 Asymmetric Short Stature Syndrome 207 Ataxia, Mental Retardaon, Short Stature, Yamagata Type 208 Ataxia, Ocular Telangiectasia, Instability 209 Ataxia, Photosensivity, Short Stature 210 Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome 211 Atkin Syndrome 212 Atkin-Flaitz Syndrome 213 ATR-16 Syndrome 214 ATR-X Syndrome 215 Auriculoosteodsplasia 216 AUTISM 217 , Mulsystem, Infanle-Onset, 1 218 Autoimmune Polyendocrine Syndrome Type 1

10 219 Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy 220 Autosomal Dominant Cus Laxa 3 (ADCL3) 221 Autosomal Dominant Hypophosphatemia 222 Autosomal Dominant Hypophosphatemic 223 Autosomal Dominant Spondyloepiphyseal Dysplasia, Sellick-Smithson Type 224 Autosomal Recessive Complex Spasc Paraplegia Type 9B 225 Autosomal Recessive Congenital Ichthyosis 4A 226 Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis 227 Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type 228 Autosomal Recessive Form of 229 Autosomal Recessive Microcephaly, MFSD2A Gene Mutaons 230 Autosomal Recessive Omodysplasia 231 Autosomal Recessive Type 2 232 Awadi/Ras-Rothschild 233 Axenfeld-Rieger Syndrome Type 1 234 Axenfield-Rieger Anomaly, Hydrocephalus, Leptomeningeal Calcificaon 235 Axial Spondylometaphyseal Dysplasia 236 Ayme-Gripp Syndrome 237 Bainbridge-Ropers Syndrome 238 Baller-Gerold Syndrome 239 Bangstad Syndrome 240 Bannayan-Zonana Syndrome, Ruvalcaba 241 Baraitser–Winter Cerebrofrontofacial Syndrome 242 Baraitser-Winter Syndrome 2 243 Barber-Say Syndrome 244 Barth Syndrome (Disease) 245 Barer Syndrome 246 Barer Syndrome, Type 1, Antenatal 247 Barer Syndrome, Type 2, Antenatal 248 Basal Ganglia Calcificaon, Idiopathic, 1 249 Baxova Syndrome 250 Beals Auriculo-Osteo Dysplasia (syndrome) 11 251 Beals Syndrome 252 Beals-Hecht Syndrome 253 Beckwith-Wiedemann Syndrome 254 Bellini Syndrome 255 Bent Dysplasia, FGFR2 Type 256 Berardinelli-Seip Syndrome 257 Berk-Tabatznik Syndrome 258 Berlin Syndrome 259 Berman Syndrome 260 Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcificaon 261 Beta-Hexosaminidase-Beta-Subunit Deficiency 262 Beta-Thalassemia 263 Biemond Syndrome Il 264 Bilateral Choanal Atresia, Cardiac Defects, Deafness, and Dysmorphic appearance 265 Bile Acid Synthesis Defect, Congenital, 5 266 Bilginturan Syndrome 267 Bindewald Ulmer Muller Syndrome Bird-headed Dwarfism with Progressive Ataxia, Insulin-Resistant Diabetes, Goiter and 268 Primary Gonadal Insufficiency 269 Bird-Headed Dwarfism, Montreal Type 270 Bird-Headed Dwarfism, Seckel Type 271 Bixler-Chrisan-Gorlin Syndrome 272 Blepharofacioskeletal Syndrome 273 Blepharophimosis 274 Blepharophimosis with Ptosis, Syndactyly, and Short Stature 275 Blepharophimosis, Coloboma, Deafness, Polydactyly 276 Blepharophimosis, Deafness, Mental Retardaon, Short Stature, Camptodactyly 277 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS 278 Blepharophimosis, Ptosis, Syndactyly, Short Stature, Autosomal Recessive 279 Blepharophimosis-Ptosis-Intellectual Disability Syndrome, UBE3B Deficiency 280 Blepharoptosis, Cle Lip-Palate, Ectrodactyly, Dental Anomalies 281 Blomstrand Chondrodysplasia

12 282 Blomstrand Lethal Chondrodysplasia 283 Bloom Syndrome 284 Bloom-Torre-Machacek Syndrome 285 BOD Syndrome 286 BOFS Syndrome 287 Bohring Syndrome 288 Bohring-Opitz Syndrome 289 Bone Dysplasia Lethal Holmgren Type 290 Bone Dysplasia, Osteoporosis, Bowing, Fractures 291 Bone Dysplasia, Rosenberg-Lohr Type 292 Bone Fragility, Contractures, Arterial Rupture, Deafness 293 Bonnemann Meinecke Reich Syndrome 294 295 Boomerang-Like Skeletal Dysplasia 296 Borjeson Syndrome 297 Borjeson-Forssman-Lehmann Syndrome 298 Borrone Dermatocardioskeletal Syndrome 299 Borrone Di Rocco Crovato Syndrome 300 BOS Syndrome 301 Boucher-Neuhauser Syndrome 302 Boudhina Yedes Khiari Syndrome 303 Bowed Long , Dysmorphic Facies, Cysc Hygroma 304 Bowed Tibiae, Radial Ray Defects, Osteopenia 305 Bowen Huerite Syndrome (formerly) 306 Bowen-Conradi Huerite Syndrome 307 Bowen-Conradi Syndrome 308 Bowing of Legs, Anterior, with Dwarfism 309 BPES 310 Brachmann-De Lange Syndrome (BdLS) 311 Brachydactyly 312 Brachydactyly and Hypertension Syndrome 313 Brachydactyly Mental Retardaon Syndrome (BDMR) 13 314 Brachydactyly Syndrome 315 Brachydactyly Type E 316 Brachydactyly, Coloboma, Anterior Segment Dysgenesis 317 Brachydactyly, Distal Symphalangism, Talipes 318 Brachydactyly, HAWS Type 319 Brachydactyly, Mononen Type 320 Brachydactyly, Short Stature, Facial Anomalies 321 Brachydactyly, Syndactyly, Short Stature, Microcephaly, Mental Retardaon 322 Brachydactyly, Type A1 323 Brachydactyly, Type A4 324 Brachydactyly, Type C 325 Brachydactyly, Type E 326 Brachydactyly, Type E1 327 Brachydactyly, Type E2 328 Brachydactyly-Distal Symphalangism Syndrome 329 Brachymelic Primordial Dwarfism 330 Brachymesomelia and Peters' Anomaly Brachymesophalangy with Mesomelic Short Limbs and Carpal and Tarsal Osseous 331 Abnormalies 332 Brachymetapody, Anodona, Hypotrichosis 333 Brachymetapody-Anodona-Hypotrichosis-Albinoidism 334 Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 335 Brachyolmia 4 with Mild Epiphyseal and Metaphyseal Changes 336 Brachyolmia Maroteaux Type 337 Brachyolmia Type 2 338 Brachyolmia Type 3 339 Brachyolmia, Amelogenesis Imperfecta 340 Brachyolmia, Autosomal Dominant 341 Brachyolmia, Hobaek Type 342 Brachyolmia, Maroteaux Type 343 Brachyolmia, Toledo Type 344 Brachyolmia, Type 4

14 345 Brachyphalangy, Tibial Aplasia, Polydactyly 346 Brachytelephalangic Chondrodysplasia Punctata 347 Brain Malformaon-Congenital Heart Disease-Postaxial Polydactyly Syndrome 348 Brain Malformaons and Urinary Tract Defects 349 Branchial Arch Syndrome, X-Linked Branchial Cles with Characterisc Facies Growth Retardaon Imperforate 350 Nasolacrimal Duct and Premature Aging 351 Branchiogenic-Deafness Syndrome 352 Branchiooculofacial Syndrome 353 Branchiooc Syndrome 1 354 Branchio-Oto-Cardio-Skeletal Syndrome 355 Branchiootorenal Syndrome 356 Branchio-Skeleto-Genital Syndrome 357 BRESEK Syndrome 358 Breunzell Syndrome, Berardinelli-Seip Congenital, Type 2 359 Brile Bone Disorder, Nishimura Type 360 Brile Cornea Syndrome 1 361 Broad Thumb-Hallux Syndrome 362 Broad Thumbs and Great Toes, Characterisc Facies, and Mental Retardaon 363 Brooks Wisniewski Brown Syndrome 364 Bruck Syndrome 1 365 Bruck Syndrome 2 366 Bullous Dystrophy, Hereditary Macular Type 367 Burn-Mckeown Syndrome 368 Burton Skeletal Dysplasia 369 Buschke-Ollendorff Syndrome 370 C Syndrome 371 C3ORF5 372 CABEZAS Syndrome 373 Café-Au-Lait Macules with Pulmonary Stenosis 374 Calvarial Hyperostosis 375 CAMFAK Syndrome

15 376 CAMOS Syndrome 377 Campomelia, Cumming Type 378 Campomelic Dysplasia 379 Camptodactyly 380 Camptodactyly Syndrome Guadalajara Type 1 381 Camptodactyly Syndrome Guadalajara Type 2 382 Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases 383 Camptodactyly, Joint Contractures, Facial, Skeletal Defects 384 Camptodactyly, Tall Stature, Hearing Loss Syndrome 385 Camptodactyly-Fibrous Tissue Hyperplasia-Skeletal Dysplasia Syndrome 386 Camptodactyly-Ichthyosis Syndrome Camptodactyly-Limited Jaw Excursion, Dutch-Kennedy Syndrome, Mouth, Inability to 387 Open Completely and Short Finger-Flexor Tendons 388 CAMRQ1 389 CAMRQ2 390 CAMTA1 391 Camura-Engelmann Disease 392 Camura-Engelmann Disease, Type 2 393 Cancer 394 Candidiasis, Familial, 7 395 CANPMR Syndrome 396 Cantalamessa Baldini Ambrosi Syndrome 397 Cantu Syndrome 398 Cantu-Sanchez-Corona Hernandez Syndrome Capillary Malformaon of the Lower Lip, Lymphac Malformaon of Face and Neck, 399 Asymmetry of Face and Limbs, and Paral/Generalized Overgrowth 400 Capillary Malformaon Syndrome 401 CAPOS Syndrome 402 Carbohydrate Deficient Glycoprotein Syndrome Type 2 403 Carbohydrate Deficient Glycoprotein Syndrome Type 2a 404 CARBOHYDRATE SULFOTRANSFERASE 8 405 Carcinoid Syndrome

16 406 Cardiac Disease 407 Cardiocranial Syndrome 408 Cardiofacial Syndrome 409 Cardiofacial Syndrome, Short Limbs 410 Cardiofaciocutaneous Syndrome 411 Cardiofaciocutaneous Syndrome 1 412 Cardiofaciocutaneous Syndrome 4 413 Cardiomelic Syndrome, Straon-Koehler Type 414 Cardiomyopathic Mitochondrial DNA Depleon Syndrome 10 415 Cardiomyopathy 416 Cardiomyopathy and Cataract 417 Cardiomyopathy, Familial Hypertrophic 418 Cardioskeletal with Neutropenia and Abnormal Mitochondria 419 Cardio-Skeletal Syndrome 420 Cardioskeletal Syndrome, Kuwai Type 421 Cardiospondylocarpofacial Syndrome 422 Carey-Fineman-Ziter Syndrome 423 Carnevale Syndrome 424 Carnevale, Mingarelli, Malpuech and Michels Syndromes 425 Carney Complex 426 Carpenter Syndrome 427 Carpenter-Waziri Syndrome 428 Carlage-Derived Morphogenec Protein 1 429 Carlage-Hair Hypoplasia (CHH) 430 CASK-Related Disorders 431 CASM Syndrome 432 Caspase-8 Deficiency 433 Castleman Disease 434 Castleman's Syndrome 435 Cat Eye Syndrome 436 Cataract 437 Cataract and Cardiomyopathy 17 438 Cataract, Aberrant Oral Frenula, and Growth Retardaon 439 Cataract, Ataxia, Mental Retardaon, Deafness, Polyneuropathy 440 Cataract, Mental Retardaon, Dentate Gyrus Atrophy 441 Cataract-Ataxia-Deafness-Retardaon Syndrome 442 Cataract-Deafness-Hypogonadism Syndrome Cataract-Growth Hormone Deficiency-Sensory Neuropathy-ensorineural Hearing 443 Loss-Skeletal Dysplasia Syndrome 444 Cataracts, Aniridia, Anophthalmia-Microphthalmia, CNS Defects 445 Cataracts, Ataxia, Short Stature, and Mental Retardaon Cataracts, Contractures, Corcal Dysplasia, Cerebellar Atrophy, Osteoporosis, Growth 446 & Mental Retardaon 447 Cataracts, Deafness, Short Stature, Hypertrichosis, Hypogonadism Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, 448 and Skeletal Dysplasia 449 Cataracts, Malabsorpon, Respiratory and Renal Disease Cataracts, Motor System Disorder, Short Stature, Learning Difficules, and Skeletal 450 Abnormalies 451 Cataracts, Short Stature, Motor Neuronopathy 452 Catel-Manzke Syndrome 453 CATMANS 454 CATSHL 455 Catshl Syndrome 456 Caudal Appendage-Deafness Syndrome 457 Caudal Appendage-Short Terminal Phalanges-Deafness Syndrome 458 Cavum Septum Pellucidum, Seizures, Mental Retardaon 459 Cayler Cardiofacial Syndrome 460 cblC 461 CblJ Defects 462 CCA 463 CCDS1 464 CCHS 465 CCM Syndrome 466 CDG Syndrome Type IIa

18 467 CDG Syndrome Type IIk 468 CDG In 469 CDG1Q 470 CDG2A 471 CDG2M 472 CDG2N 473 CDGIa 474 CDGIIa 475 CDG-IIa 476 CDGIIc 477 CDGIIg 478 CDGIIk 479 CDGIIn 480 CDGIn 481 CDGIt 482 CDGS2 483 CDGS2, FORMERLY 484 CDKL5 485 CDKL5 Early-Onset Encephalopathy 486 CDKL5 Gene Duplicaon 487 CDMP1 488 Cecato De Lima Pinheiro Syndrome 489 Celiac Disease 490 Cenani Syndactylism 491 Cenani-Lenz Type Syndactyly Syndrome 492 Central Hypothyroidism, Tescular Enlargement 493 Central Precocious Puberty 494 Central Sclerosis, Bamboo Hair, Ichthyosis 495 Centromeric Instability of 1,9 and 16 and Immunodeficiency 496 Centronuclear Myopathy, , Cafe Au Lait Spots 497 Cephaloskeletal Dysplasia 498 Cerebellar Ataxia and Hypogonadotropic Hypogonadism 19 499 Cerebellar Ataxia, Developmental Deleonay, Failure to Thrive 500 Cerebellar Ataxia, Infanle Nonprogressive, Autosomal Recessive 501 Cerebellar Ataxia, Mental Retardaon, and Dysequilibrium Syndrome 1 502 Cerebellar Ataxia, Mental Retardaon, and Dysequilibrium Syndrome 2 503 Cerebellar Hypoplasia and Mental Retardaon with or Without Quadrupedal Locomoon 504 Cerebellar Hypoplasia with Endosteal Sclerosis 505 Cerebellar Hypoplasia, Congenital Lymphoedema 506 Cerebellar Hypoplasia, Endosteal Sclerosis, Mental Retardaon 507 Cerebellar Hypoplasia, Nonprogressive Norman Type 508 Cerebellar Hypoplasia, VLDLR-Associated 509 Cerebellofaciodental Syndrome 510 Cerebello-Oculo-Renal Syndrome, Male Inferlity, NPHP4 Mutaons 511 Cerebellooculorenal Syndrome, Type 1 512 Cerebello-Trigeminal-Dermal Dysplasia 513 Cerebral Aneurysm-Cirrhosis Syndrome 514 Cerebral Calcificaon, Opalescent Teeth, Phosphaturia 515 Cerebral Calcificaon-Cerebellar Hypoplasia 516 Cerebral Calcificaons, Kahn-Markowitz Type 517 Cerebral Creane Deficiency Syndrome 1 518 Cerebral Dysgenesis, Neuropathy, Ichthyosis, Palmoplantar Keratoderma Syndrome 519 Cerebral Gigansm 520 Cerebral Gigansm Jaw Cysts 521 Cerebral Lacc Acidosis 522 Cerebral Palsy 523 Cerebral Palsy Spasc Diplegic 524 Cerebral, Ocular, Dental Auricular, and Skeletal Anomalies Syndrome 525 Cerebro Facio Thoracic Dysplasia 526 Cerebro Oculo Skeleto Renal Syndrome 527 Cerebroarthrodigital Syndrome 528 Cerebro-Cerebellar Lissencephaly Variant 529 Cerebro-Costo-Mandibular Syndrome 530 Cerebrofacioarcular Syndrome 20 531 Cerebrofaciothoracic Dysplasia 532 Cerebrofrontofacial Syndrome 533 Cerebrohepatoeenal Syndrome 534 Cerebro-Oculo-Facio-Skeletal Syndrome 535 Cerebro-Oculo-Facio-Skeletal Syndrome 4 536 Cerebro-Oculo-Hepato-Renal Syndrome 537 Cerebro-Oculo-Skeletal-Renal Syndrome 538 Cerebro-Renal-Digital Syndrome, Lurie (G) Type 539 Cerebro-Renal-Digital Syndrome, Piantanida Type 540 Cerebro-Reno Digital Syndrome 541 Cerebrorenodigital Syndrome with Limb Malformaons and Triradiate Acetabula 542 Cerebrorenal Microangiopathy with Calcificaons and Cysts 1 543 Cerebrorenal Microangiopathy, Calcificaon, Cysts 2 544 Cervicooculoacousc Syndrome 545 CF 546 Chadarevian-Kaplan Syndrome 547 Chagas Disease 548 Chanarin Dorfman Syndrome 549 Char Douglas Dungan Syndrome 550 Charcot-Marie-Tooth 551 Charcot-Marie-Tooth Disease Type 2C 552 Charcot-Marie-Tooth Disease with Other Defects 553 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2C 554 Charcot-Marie-Tooth Neuropathy, Type 2C 555 CHARGE Syndrome 556 Charlie M Syndrome 557 Cherubism, Gingival Fibrsis, and Short Stature 558 Cherubism, Opc Atrophy, Short Stature 559 CHILD Syndrome 560 Childhood Mulple Sclerosis Childhood-Onset Choreoathetosis with Spascity, Postnatal Microcephaly, Growth and 561 Mental Retardaon, Ophthalmoplegia, and Deafness

21 562 Childhood-Onset Hypophosphatasia 563 Childhood-Onset 564 Childhood-Onset Neurodegeneraon, Ataxia, Dystonia, Gaze Palsy 565 Childhood-Onset Phosphoethanolaminuria 566 Childhood-Onset Rathburn Disease 567 CHIME Syndrome 568 Chitayat-Hall Syndrome 569 Chiy Hall Baraitser Syndrome 570 Chiy-Baraitser Syndrome 571 Choanal Atresia, Hypothelia, Speech Deleonay 572 Choanal Atresia, Hypothelia-Athelia, Hypoplasc Thyroid 573 Choanal Atresia, Maxillary Hypoplasia, Prognathism, Hypodona 574 Cholestasis, Progressive Familial Intrahepac 575 Cholestasis, Progressive Familial Intrahepac 2 576 Chondrodyslasia 577 Chondrodyslasia, Megarbane-Dagher-Melki Type 578 Chondrodysplasia Calcificans Congenita 579 Chondrodysplasia Calcificans Metaphysealis 580 Chondrodysplasia Grebe Type 581 Chondrodysplasia Lethal Recessive 582 Chondrodysplasia Ossificans Metaphysealis 583 Chondrodysplasia Pseudohermaphrodism Syndrome 584 Chondrodysplasia Punctata 1, X-Linked Recessive 585 Chondrodysplasia Punctata 2, X-Linked Dominant 586 Chondrodysplasia Punctata Brachytelephalangic 587 Chondrodysplasia Punctata Congenita 588 Chondrodysplasia Punctata, Autosomal Dominant 589 Chondrodysplasia Punctata, Brachytelephalangic, Zizka Type 590 Chondrodysplasia Punctata, Humero-Metacarpal Type 591 Chondrodysplasia Punctata, Mild-Symmetrical Type 592 Chondrodysplasia Punctata, Morer Type 593 Chondrodysplasia Punctata, MT Type 22 594 Chondrodysplasia Punctata, Rhizomelic, Type 1 595 Chondrodysplasia Punctata, Rhizomelic, Type 2 596 Chondrodysplasia Punctata, Rhizomelic, Type 3 597 Chondrodysplasia Punctata, -Metacarpal Type 598 Chondrodysplasia Punctata, Toriello Type 599 Chondrodysplasia Punctata, Toriello-Miller Type 600 Chondrodysplasia Punctata, X-Linked Dominant Type 601 Chondrodysplasia Punctata, X-Linked Recessive 602 Chondrodysplasia with Hemangioma Chondrodysplasia with Platyspondyly, Disncve Brachydactyly, Hydrocephaly and 603 Microphthalmia 604 Chondrodysplasia, Blomstrand Type 605 Chondrodysplasia, Joint Dislocaons, Grapp Type 606 Chondrodysplasia, Joint Dislocaons, IMPAD1 Mutaons 607 Chondrodysplasia, Joint Dislocaons, Megarbane-Ghanem Type 608 Chondrodysplasia, Megarbane-Dagher-Melki Type 609 Chondrodysplasia-Pseudohermaphrodism Syndrome 610 Chondrodystrophia Calcificans Congenita 611 Chondrodystrophic Myotonia 612 Chondroectodermal Dysplasia with Night Blindness 613 Chondroectodermal Dysplasia-Like Syndrome 614 CHOPS Syndrome 615 Choreoacanthocytosis 616 Choreoathetosis with Mental Retardaon X- linked 617 Chorioamnionis 618 Choriorenal Dysplasia, Microcephaly, Mental Retardaon 619 Choriorenal Dystrophy, Cerebellar Ataxia, Hypogonadism 620 Choroideremia Hypopituitarism 621 Choroideremia, Deafness, Obesity 622 Chrisan Syndrome 623 Chrome 1q Duplicaon Disorders 624 Chromophobe Renal Cell Carcinoma

23 625 Chromosomal Disease 626 , Deleon 1p(p21-p32) 627 Chromosome 1, Deleon 1p(p32.1p32.3) 628 Chromosome 1, Deleon 1p32-1p31 629 Chromosome 1, Deleon 1p34 630 Chromosome 1, Deleon 1p36 631 Chromosome 1, Deleon 1q(q25q32) 632 Chromosome 1, Deleon 1q24-q25 633 Chromosome 1, Deleon 1q43-q44 Syndrome 634 Chromosome 1, Distal 1q Trisomy 635 Chromosome 1, Duplicaon 1(q23.1q31.1) 636 Chromosome 1, Duplicaon 1p 637 Chromosome 1, Duplicaon 1q 638 Chromosome 1, Duplicaon 1q(q12q22) 639 Chromosome 1, Duplicaon 1q(q25q32) 640 Chromosome 1, Duplicaon 1q21.1 641 Chromosome 1, Duplicaon 1q41-qter 642 Chromosome 1, Intersal Deleon 1p 643 Chromosome 1, Intersal Deleon 1q(q24.1q25.3) 644 Chromosome 1, Microdeleon 1q21.1 645 Chromosome 1, Microdeleon 1q41q42 646 Chromosome 1, Microdeleon 1q41-q42 647 Chromosome 1, Microduplicaon 1p34.1 648 Chromosome 1, Mosaic Trisomy 1 649 Chromosome 1, Proximal 1p36 Deleon 650 Chromosome 10, Deleon 10p11-p12 651 Chromosome 10, Distal Deleon 10q 652 Chromosome 10, Distal Trisomy 10 653 Chromosome 10, Distal Trisomy 10q 654 Chromosome 10, Duplicaon 10(q11-q22) 655 Chromosome 10, Duplicaon 10q 656 Chromosome 10, Intersal Deleon 10q 24 657 Chromosome 10, Monosomy 10p 658 Chromosome 10, Paral Deleon 10p 659 Chromosome 10p Deleon 660 Chromosome 10q Deleon (10)(q26.1q26.3) 661 Chromosome 10q26 Deleon Syndrome 662 Chromosome 11 Deleon 11p13 Syndrome 663 Chromosome 11 Deleon 11q14.3q21 664 Chromosome 11 Deleon 11q23.3qtr 665 Chromosome 11, Intersal Deleon 11q 666 Chromosome 11, Microduplicaon 11p15.4 667 Chromosome 11, Microtriplicaon 11q24.1 668 Chromosome 11, Mosaic Trisomy 11 669 Chromosome 11, Paral Deleon 11p 670 Chromosome 11, Paral Monosomy 11q 671 Chromosome 11, Paral Trisomy 11q 672 Chromosome 11, Terminal Duplicaon 11q 673 , De Novo Trisomy 12q23.1q24.33 674 Chromosome 12, Deleon 12p 675 Chromosome 12, Deleon 12q24.31 -q24.33 676 Chromosome 12, Duplicaon 12p 677 Chromosome 12, Intersal Deleon 12q 678 Chromosome 12, Microdeleon 12q13.13 679 Chromosome 12, Microdeleon 12q14 680 Chromosome 12, Microdeleon 12q21.31q21.32 681 Chromosome 12, Mosaic Paral Duplicaon 12q 682 Chromosome 12, Mosaic Trisomy 12 683 Chromosome 12, Paral Duplicaon 12q 684 Chromosome 12p Duplicaon 685 Chromosome 12q Duplicaon 686 Chromosome 12q13.13q13.13 Microduplicaon and Microdeleon 687 Chromosome 13 Deleon 13q12.1-14.1 688 Chromosome 13, Deleon 13q14 25 689 Chromosome 13, Deleon 13q33-q34 690 Chromosome 13, Intersal Deleon 13q 691 Chromosome 13, Microduplicaon 13q31.3 692 Chromosome 13, Paral Duplicaon 13p 693 Chromosome 13, Paral Duplicaon 13q 694 Chromosome 13, Trisomy 13 695 Chromosome 13q Duplicaon 696 Chromosome 13q14 Deleon Syndrome 697 Chromosome 14 Intersal Deleon 14q24-q32 698 Chromosome 14, Deleon 14q11.22 699 Chromosome 14, Deleon 14q12 700 Chromosome 14, Deleon 14q23 701 Chromosome 14, Deleon 14q31 and 14q32.12 702 Chromosome 14, Intersal Deleon 14q(q22q23) 703 Chromosome 14, Microdeleon 14q12 704 Chromosome 14, Microdeleon 14q12, Re Syndrome-Like PhenoType 705 Chromosome 14, Mosaic Trisomy 14 706 Chromosome 14, Proximal 14q Duplicaon 707 Chromosome 14, Ring Chromosome 14 708 Chromosome 14, Trisomy Mosaic 709 Chromosome 14q11-q22 Deleon Syndrome 710 Chromosome 15, Deleon 15q(q15q22.1) 711 Chromosome 15, Deleon 15q11.2 712 Chromosome 15, Deleon 15q11–q14 713 Chromosome 15, Deleon 15q21 714 Chromosome 15, Deleon 15q26-qter 715 Chromosome 15, Distal Trisomy 15 716 Chromosome 15, Distal Trisomy 15q 717 Chromosome 15, Duplicaon 15q 718 Chromosome 15, Intersal Deleon 15q(q21q25) 719 Chromosome 15, Microdeleon 15q13.3 720 Chromosome 15, Microdeleon 15q24 26 721 Chromosome 15, Microdeleon 15q25.2 722 Chromosome 15, Microdeleon 15q26.1 723 Chromosome 15, Proximal Deleon 15q 724 Chromosome 15, Tetrasomy 15q 725 Chromosome 15, Trisomy 15q2 726 Chromosome 15q11q13 Duplicaon Syndrome 727 Chromosome 15q14 Deleon Syndrome 728 Chromosome 15q21.1 Deleon 729 Chromosome 15q24 Deleon Syndrome 730 Chromosome 15q24 Duplicaon Syndrome, Included 731 Chromosome 15q25 Deleon Syndrome 732 Chromosome 15q26-qter Deleon Syndrome 733 Chromosome 16 [Deleon(16)(q23.1q24.2) 734 Chromosome 16, Duplicaon 16p11.2-p12.2 735 Chromosome 16, Intersal Deleon 16q 736 Chromosome 16, Microdeleon 16p11.2, Ausm Spectrum Disorder 737 Chromosome 16, Microdeleon 16p12.1 738 Chromosome 16, Microdeleon 16q11.2q12.2 739 Chromosome 16, Microdeleon 16q24.3 740 Chromosome 16, Microduplicaon 16p11.2 741 Chromosome 16, Microduplicaon 16p13.3 742 Chromosome 16, Paral Duplicaon 16p 743 Chromosome 16, Trisomy 16 744 Chromosome 16p12.2-p11.2 Deleon Syndrome, 7.1- to 8.7-MB 745 Chromosome 16p13.3 Deleon Syndrome 746 Chromosome 16p13.3 Deleon Syndrome, Proximal 747 Chromosome 16p13.3 Duplicaon Syndrome 748 Chromosome 16q22 Deleon Syndrome 749 Chromosome 16-Related Alpha-Thalassemia/Mental Retardaon Syndrome 750 Chromosome 17 Trisomy Mosaicism 751 Chromosome 17, Deleon 17p13.1-p11.2 752 Chromosome 17, Duplicaon 17p11.2 27 753 Chromosome 17, Duplicaon 17p12 754 Chromosome 17, Duplicaon 17q21.2 755 Chromosome 17, Microdeleon 17q12 756 Chromosome 17, Microdeleon 17q21.31 757 Chromosome 17, Microdeleon 17q23.1q23.2 758 Chromosome 17, Microduplicaon 17q11.2 759 Chromosome 17, Microduplicaon 17q21.31 760 Chromosome 17, Microduplicaon 17q23.2 761 Chromosome 17, Microduplicaon 17q25.3 762 Chromosome 17, Mosaic Trisomy 17 763 Chromosome 17, Paral Duplicaon 17p 764 Chromosome 17, Paral Duplicaon 17q 765 Chromosome 17p Duplicaon 766 Chromosome 17p13.1 Deleon Syndrome 767 Chromosome 17p13.3 Deleon Syndrome, INCLUDED 768 Chromosome 17p13.3 Duplicaon Syndrome 769 Chromosome 17p13.3, Centromeric, Duplicaon Syndrome 770 Chromosome 17q Deleon 771 Chromosome 17q11.2 Deleon Syndrome, 1.4Mb 772 Chromosome 17q12 Deleon Syndrome 773 Chromosome 17q21.31 Duplicaon Syndrome 774 Chromosome 17q23.1-q23.2 Duplicaon Syndrome 775 Chromosome 18 Distal 18q Deleon Syndrome 776 Chromosome 18, Deleon 18p11.3 777 Chromosome 18, Intersal Deleon 18q 778 Chromosome 18, Microdeleon 18q11.2 779 Chromosome 18, Monosomy 18p 780 Chromosome 18, Paral Deleon 18q 781 Chromosome 18, Proximal Deleon 18q 782 Chromosome 18, Trisomy 18 783 Chromosome 18, Trisomy 18p 784 Chromosome 18p Deleon Syndrome 28 785 Chromosome 18p Duplicaon 786 Chromosome 18q- Syndrome 787 Chromosome 19- Trisomy 19q 788 Chromosome 19, Deleon 19p13.3 Microdeleon 789 Chromosome 19, Deleon 19p13.3, Deleon of MAP2K2/MEK2 790 Chromosome 19, Deleon 19q12q13.1 791 Chromosome 19, Deleon/Duplicaon 19p13.13 792 Chromosome 19, Intersal Duplicaon 19p 793 Chromosome 19, Microduplicaon Terminal 19p 794 Chromosome 19, Mosaic Trisomy 19 795 Chromosome 19, Paral Trisomy 19p13 796 Chromosome 19q13.11 Deleon Syndrome 797 Chromosome 19q13.11 Deleon Syndrome, Distal 798 Chromosome 1p Duplicaon 799 Chromosome 1p32-p31 Deleon Syndrome 800 Chromosome 1q Duplicaon 801 Chromosome 1q21.1 Deleon Syndrome 802 Chromosome 1q21.1 Deleon Syndrome, 1.35Mb 803 Chromosome 1q21.1 Microdeleon Syndrome 804 Chromosome 1q41-Q42 Deleon Syndrome 805 , 2p23 Microdeleon 806 Chromosome 2, Deleon 2p12-p11.2 807 Chromosome 2, Deleon 2p16.3 with NRXN1 Deleons 808 Chromosome 2, Deleon 2pter 809 Chromosome 2, Deleon 2q37 810 Chromosome 2, Duplicaon 2q21-q33 811 Chromosome 2, Duplicaon 2q3 812 Chromosome 2, Duplicaon2q11.1-q13.2 813 Chromosome 2, Intersal Deleon 2p 814 Chromosome 2, Intersal Deleon 2q(q13q22) 815 Chromosome 2, Microdeleon 2q31.1 816 Chromosome 2, Microdeleon 2q31.1-q31.2 29 817 Chromosome 2, Microdeleon 2q33.1 818 Chromosome 2, Microduplicaon in 2p16-2p22 819 Chromosome 2, Mosaic Trisomy 2 820 Chromosome 2, Paral Trisomy 2p 821 Chromosome 2, Terminal Deleon 2q 822 Chromosome 20 Ring 823 Chromosome 20, Deleon 20q(q13.32-13.33) 824 Chromosome 20, Deleon 20q13 x 11 825 Chromosome 20, Duplicaon 20q11.2 826 Chromosome 20, Microdeleon q11.21 827 Chromosome 20, Mosaic Trisomy 20 828 Chromosome 20, Paral Duplicaon 20q 829 Chromosome 20p Deleons 830 Chromosome 21 Ring 831 Chromosome 21, Deleon 21q22.1q22.3 832 Chromosome 21, Intersal Deleon 21q(q11-q21.3) 833 Chromosome 21, Monosomy 21 834 Chromosome 22, Deleon 22q11.2 Syndrome 835 Chromosome 22, Deleon 22q13 836 Chromosome 22, Duplicaon 22(pter-q11) Duplicaon 11(q23-qter) 837 Chromosome 22, Microduplicaon 22q11.2 838 Chromosome 22, Microduplicaon 22q13 839 Chromosome 22, Paral Deleon 22q 840 Chromosome 22, Trisomy 22 841 Chromosome 2p, Deleon 2p12-p11.2 842 Chromosome 2p, Deleon Syndrome 843 Chromosome 2p16.1 Deleon Syndrome 844 Chromosome 2p16.1P15 Deleon Syndrome 845 Chromosome 2q31.1 Duplicaon Syndrome 846 Chromosome 2q35-q36.2 Deleon 847 Chromosome 2q37 Deleon Syndrome 848 Chromosome 3 Deleon, 3p14.12 Syndrome 30 849 Chromosome 3 Duplicaon Syndrome 850 Chromosome 3 Open Reading Frame 5 851 Chromosome 3, 3q26.33-3q28 Microdeleon 852 Chromosome 3, Deleon 3p 853 Chromosome 3, Deleon 3p14p12 854 Chromosome 3, Deleon 3p22.3p22.2 855 Chromosome 3, Deleon 3p25.3 856 Chromosome 3, Deleon 3q13.2-q13.31 857 Chromosome 3, Deleon 3q21.1q21.3 858 Chromosome 3, Deleon 3q27-qter 859 Chromosome 3, Deleon 3q28-29 860 Chromosome 3, Distal 3q2 Duplicaon 861 Chromosome 3, Duplicaon 3p25.3 862 Chromosome 3, Intersal Deleon 3p(p12p14) 863 Chromosome 3, Intersal Deleon 3p22.2-p24.2 864 Chromosome 3, Microdeleon 3q13.31 865 Chromosome 3, Microdeleon 3q26.32 866 Chromosome 3, Microdeleon 3q26.33-3q27.2 867 Chromosome 3, Microduplicaon 3q13.31 868 Chromosome 3, Monosomy 3p25 869 Chromosome 3, Mosaic Trisomy 3 870 Chromosome 3, Paral Duplicaon 3p 871 Chromosome 3, Paral Duplicaon 3q 872 Chromosome 3, Paral Duplicaon 3q and Deleon 3p 873 Chromosome 3, Trisomy 3q2 874 Chromosome 3p Deleon 875 Chromosome 3p Duplicaon 876 Chromosome 3p- Syndrome 877 Chromosome 3pter-p25 Deleon Syndrome 878 Chromosome 4, 4p16.3 Microdeleon 879 Chromosome 4, Duplicaon 4p16.3 880 Chromosome 4, Intersal Deleon 4p 31 881 Chromosome 4, Intersal Deleon 4q 882 Chromosome 4, Microdeleon 4q21 883 Chromosome 4, Monosomy 4q 884 Chromosome 4, Monosomy Distal 4q 885 Chromosome 4, Mosaic Trisomy 4 886 Chromosome 4, Paral Trisomy 4p 887 Chromosome 4, Trisomy 4p 888 Chromosome 4p Deleon 889 Chromosome 4p Duplicaon 890 Chromosome 4p16.3 Duplicaon 891 Chromosome 4pter-p16.3 Duplicaon 892 Chromosome 4q Deleon 893 Chromosome 5 Deleon, 5p15.2-5p15.3 894 Chromosome 5, 5q35 Microduplicaon 895 Chromosome 5, Distal Duplicaon 5q 896 Chromosome 5, Distal Duplicaon 5q ter 897 Chromosome 5, Distal Duplicaon 5q31 (32/33) 898 Chromosome 5, Duplicaon 5p13 899 Chromosome 5, Microdeleon 5q14.3 900 Chromosome 5, Mosaic Trisomy 5 901 Chromosome 5, Paral Deleon 5p 902 Chromosome 5, Subtelomeric Deleon 5q 903 Chromosome 5, Subtelomeric Deleon 5q Syndrome 904 Chromosome 5, Trisomy 5p, Complete (5p11-ter), Included 905 Chromosome 5p Deleons 906 Chromosome 5p Duplicaon 907 Chromosome 5q12 Deleon Syndrome 908 Chromosome 5q14.3 Deleon Syndrome, Proximal, Included 909 Chromosome 6 Ring 910 Chromosome 6, 6p Duplicaon 911 Chromosome 6, Deleon 6q11-q16 912 Chromosome 6, Deleon 6q16 32 913 Chromosome 6, Deleon 6q27 914 Chromosome 6, Microdeleon 6p25 915 Chromosome 6, Terminal Deleon 6q 916 Chromosome 6, Terminal Deleon 6q21-qter 917 Chromosome 6p Deleon 918 Chromosome 6q11-q14 Deleon Syndrome 919 Chromosome 6q24-q25 Deleon Syndrome 920 Chromosome 7 Ring Syndrome 921 Chromosome 7, 7p Deleon Syndrome, Paral 922 Chromosome 7, Deleon 7p15.2-p14.3 923 Chromosome 7, Deleon 7p15.3-p21.2 924 Chromosome 7, Deleon 7q11.21-q11.23 925 Chromosome 7, Deleon 7q11.22-q11.23 926 Chromosome 7, Deleon 7q36 927 Chromosome 7, Intersal Deleon 7p 928 Chromosome 7, Intersal Deleon 7q 929 Chromosome 7, inv(7)(q21.3q35) 930 Chromosome 7, Microdeleon 7q22.2-q22.3 931 Chromosome 7, Microduplicaon 7p22 932 Chromosome 7, Microduplicaon 7q21.2-7q31.31 933 Chromosome 7, Microduplicaon 7q21-7q32 934 Chromosome 7, Mosaic Trisomy 7 935 Chromosome 7, Paral Monosomy 7p 936 Chromosome 7p13.3, Centromeric, Duplicaon Syndrome 937 Chromosome 7q Deleons Between 7q21 & 7q32 938 Chromosome 7q11.23 Deleon Syndrome, 1.5- TO 1.8-MB 939 Chromosome 7q11.23 Deleon Syndrome, Distal, 1.2-MB 940 Chromosome 8 Deleon q24 De Novo 941 Chromosome 8, 8q24.3 Deleon Syndrome 942 Chromosome 8, Deleon 8q 943 Chromosome 8, Deleon 8q11-q13 944 Chromosome 8, Deleon 8q22.2q22.3 33 945 Chromosome 8, Duplicaon 8p 946 Chromosome 8, Duplicaon 8p23.1 947 Chromosome 8, Microdeleon 8q21.11 948 Chromosome 8, Mosaic Tetrasomy 8q 949 Chromosome 8, Mosaic Trisomy 8 950 Chromosome 8, Trisomy 951 Chromosome 8p23.1 Deleon 952 Chromosome 8q21.11 Deleon Syndrome 953 Chromosome 8q22.1 Duplicaon Syndrome 954 Chromosome 8q24.3 Deleon Syndrome 955 Chromosome 9, 9p13 956 Chromosome 9, Complete Trisomy 9P 957 Chromosome 9, Microdeleon 9q22.3 958 Chromosome 9, Paral Deleon 9p 959 Chromosome 9, Paral Deleon 9p, Duplicaon 5q 960 Chromosome 9, Paral Deleon 9q 961 Chromosome 9, Paral Duplicaon 9p 962 Chromosome 9, Tetrasomy 9p 963 Chromosome 9, Trisomy 9 964 Chromosome 9q Deleon 965 Chromosome WAGR 11 Deleon 11p13 Syndrome 966 Chromosome X, Deleon Xp11.4-p11.3 967 Chromosome X, Deleon Xp21 968 Chromosome X, Deleon Xp22 969 Chromosome X, Deleon Xp22.31-Xp22.12 970 Chromosome X, Deleon Xp22.33 971 Chromosome X, Deleon Xp22.33-Xp22.12 972 Chromosome X, Distal Duplicaon Xp 973 Chromosome X, Duplicaon Xp 974 Chromosome X, Duplicaon Xp11.23-p11.4 975 Chromosome X, Duplicaon Xp22.11-p22.32 976 Chromosome X, Duplicaon Xp22.2-22.13 34 977 Chromosome X, Duplicaon Xq 978 Chromosome X, Duplicaon Xq27.3q28 979 Chromosome X, Duplicaon Xq28 980 Chromosome X, FraXq27 981 Chromosome X, Microduplicaon Xp11.22-p11.23 982 Chromosome X, Microduplicaon Xp22.31 983 Chromosome X, Microduplicaon Xq26.3 984 Chromosome X, Xp11.22 Microduplicaon Ligaon Syndrome 985 Chromosome Xp11.23-p11.22 DUPLICATION SYNDROME 986 Chromosome Xp11.3 Deleon Syndrome 987 Chromosome Xp21 Deleon Syndrome 988 Chromosome Xq Duplicaon 989 Chromosome Xq26.3 Duplicaon Syndrome 990 Chromosome Xq27.3-q28 Duplicaon Syndrome 991 Chromosome Xq27.3Q28 Duplicaonlicaon Syndrome 992 Chromosome Xq28 Deleon Syndrome 993 Chromosome 17q21.31 Duplicaon Syndrome 994 Chromosome 19p13.13 Duplicaon Syndrome, Included 995 Chromosome 2q31.1 Duplicaon Syndrome 996 Chromosome 5p13 Duplicaon Syndrome 997 Chromosome 5q12 Deleon Syndrome 998 Chromosome Xq28 Duplicaon Syndrome 999 Chrone's Disease

35 36 Decreased Serum Insulin-like Growth Factor 1 Associated Diseases (OMIM/ORPHA database Gene Search Summary)

Disease id Disease name Associated

OMIM: 615961 ACID-LABILE SUBUNIT DEFICIENCY IGFALS (3483) ORPHA: DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE 293978 IMMUNODEFICIENCY SYNDROME NFKB2 (4791) ORPHA: 314811 SHORT STATURE DUE TO GHSR DEFICIENCY GHSR (2693) ORPHA: 314802 SHORT STATURE DUE TO PARTIAL GHR DEFICIENCY GHR (2690) ORPHA: SHORT STATURE DUE TO PRIMARY ACID-LABILE SUBUNIT 140941 DEFICIENCY IGFALS (3483) OMIM: 241080 WOODHOUSE-SAKATI SYNDROME DCAF17 (80067) ORPHA: 314389 XQ12-Q13.3 DUPLICATION SYNDROME

Insulin-like Growth Factor 1 (diseases) (OMIM/ORPHA database Gene Search Summary)

Disease id Disease name Associated genes

OMIM: 270450 INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO IGF1R (3480) OMIM: 102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING AIP (9049), GNAS (2778) ORPHA: 314389 XQ12-Q13.3 DUPLICATION SYNDROME ORPHA: 314802 SHORT STATURE DUE TO PARTIAL GHR DEFICIENCY GHR (2690) ORPHA: DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE 293978 IMMUNODEFICIENCY SYNDROME NFKB2 (4791) ORPHA: 300373 FAMILIAL INFANTILE GIGANTISM ORPHA: 314811 SHORT STATURE DUE TO GHSR DEFICIENCY GHSR (2693) ORPHA: SHORT STATURE DUE TO PRIMARY ACID-LABILE SUBUNIT 140941 DEFICIENCY IGFALS (3483) OMIM: 615961 ACID-LABILE SUBUNIT DEFICIENCY IGFALS (3483)

37 ORPHA: 99725 PITUITARY GIGANTISM OMIM: 241080 WOODHOUSE-SAKATI SYNDROME DCAF17 (80067)

Disproporonate Short Limb Associated Diseases (OMIM/ORPHA database Gene Search Summary)

Disease id Disease name Associated genes

ORPHA: 93296 COL2A1 (1280) OMIM: 600972 ACHONDROGENESIS, TYPE IB SLC26A2 (1836) OMIM: 200610 ACHONDROGENESIS, TYPE II COL2A1 (1280) OMIM: 100800 ACHONDROPLASIA FGFR3 (2261) ORPHA:15 ACHONDROPLASIA FGFR3 (2261) OMIM: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND 616482 ACANTHOSIS NIGRICANS FGFR3 (2261) OMIM: 607778 ACROCAPITOFEMORAL DYSPLASIA IHH (3549) OMIM: 101800 ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE PRKAR1A (5573) ORPHA: BMPR1B (658), GDF5 2098 , GREBE TYPE (8200) OMIM: 201250 ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE GDF5 (8200) ORPHA:968 ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE GDF5 (8200) OMIM: 607095 ANAUXETIC DYSPLASIA RMRP (6023) OMIM: 611263 ASPHYXIATING THORACIC DYSTROPHY 2 IFT80 (57560) ORPHA: 85175 ASTLEY-KENDALL DYSPLASIA OMIM: 108720 ATELOSTEOGENESIS, TYPE I FLNB (2317) OMIM: 108721 ATELOSTEOGENESIS, TYPE III FLNB (2317) AUTOSOMAL DOMINANT MYOPIA-MIDFACIAL RETRUSION- ORPHA: SENSORINEURAL HEARING LOSS-RHIZOMELIC DYSPLASIA 440354 SYNDROME COL11A1 (1301)

38 ORPHA: 93328 AUTOSOMAL DOMINANT OMODYSPLASIA FZD2 (2535) ORPHA: 1507 AUTOSOMAL RECESSIVE ROR2 (4920) ORPHA: 168549 AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA OMIM: 300881 BARATELA-SCOTT SYNDROME ORPHA: 50945 BLOMSTRAND LETHAL CHONDRODYSPLASIA PTH1R (5745) OMIM: 605039 BOHRING-OPITZ SYNDROME ASXL1 (171023) ORPHA: 1842 BONE DYSPLASIA, LETHAL HOLMGREN TYPE ORPHA: 1263 BOOMERANG DYSPLASIA FLNB (2317) OMIM: 114290 CAMPOMELIC DYSPLASIA SOX9 (6662) OMIM: 250250 -HAIR HYPOPLASIA RMRP (6023) ORPHA:175 CARTILAGE-HAIR HYPOPLASIA RMRP (6023) OMIM: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE 300863 BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA HDAC6 (10013) OMIM: CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL 609441 ANOMALIES BMPR1B (658) OMIM: 200700 CHONDRODYSPLASIA, GREBE TYPE GDF5 (8200) ORPHA: 1453 CLEIDORHIZOMELIC SYNDROME OMIM: 119650 CLEIDORHIZOMELIC SYNDROME ORPHA: CLOVERLEAF -MULTIPLE CONGENITAL ANOMALIES 93267 SYNDROME OMIM: 611209 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIG COG1 (9382) ORPHA: CONGENITAL -MICROCEPHALY- 2772 CATARACTS SYNDROME OMIM: 260660 COUSIN SYNDROME TBX15 (6913) WDR19 (57728), IFT43 (112752), WDR35 ORPHA: (57539), IFT122 1515 CRANIOECTODERMAL DYSPLASIA (55764), IFT52 (51098) OMIM: 218330 CRANIOECTODERMAL DYSPLASIA 1 IFT122 (55764)

39 OMIM: 613610 CRANIOECTODERMAL DYSPLASIA 2 WDR35 (57539) OMIM: 251450 DESBUQUOIS DYSPLASIA 1 CANT1 (124583) ORPHA: XYLT1 (64131), CANT1 1425 DESBUQUOIS SYNDROME (124583) OMIM: 602398 DESMOSTEROLOSIS DHCR24 (1718) ORPHA:628 DIASTROPHIC SLC26A2 (1836) OMIM: 222600 SLC26A2 (1836) ORPHA: 3379 DISTAL TRISOMY 17Q OMIM: 127200 DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES OMIM: 223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE DYM (54808) OMIM: 127350 DYSCHONDROSTEOSIS AND NEPHRITIS ORPHA: 1765 DYSCHONDROSTEOSIS-NEPHRITIS SYNDROME OMIM: 224400 DYSSEGMENTAL DYSPLASIA, ROLLAND-DESBUQUOIS TYPE ORPHA: 1865 DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE HSPG2 (3339) OMIM: 224410 DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE HSPG2 (3339) EVC2 (132884), EVC (2121), DYNC2LI1 ORPHA:289 ELLIS VAN CREVELD SYNDROME (51626) OMIM: EVC2 (132884), EVC 225500 ELLIS-VAN CREVELD SYNDROME (2121) OMIM: 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 COMP (1311) OMIM: 228520 1 COL11A1 (1301) OMIM: 228900 FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY GDF5 (8200) OMIM: 215140 GREENBERG DYSPLASIA LBR (3930) ORPHA: 1426 GREENBERG DYSPLASIA LBR (3930) ORPHA: 1354 HEART DEFECTS-LIMB SHORTENING SYNDROME

40 ORPHA: 2130 HEMIMELIA OMIM: 146000 FGFR3 (2261) ORPHA:429 HYPOCHONDROPLASIA FGFR3 (2261) OMIM: 241500 HYPOPHOSPHATASIA, INFANTILE ALPL (249) ORPHA: 63259 INIENCEPHALY ORPHA:485 COL2A1 (1280) OMIM: 245190 KNIEST-LIKE DYSPLASIA, LETHAL ORPHA: 2632 LANGER MESOMELIC DYSPLASIA SHOX (6473) OMIM: 249700 LANGER MESOMELIC DYSPLASIA OMIM: 127300 LERI-WEILL DYSCHONDROSTEOSIS ORPHA:240 LÉRI-WEILL DYSCHONDROSTEOSIS SHOX (6473) DECIPHER: 58 LERI-WEILL DYSCHONDROSTOSIS (LWD) - SHOX DELETION ORPHA: 35688 MADELUNG DEFORMITY OMIM: 600383 -SYNOSTOSES SYNDROME OMIM: 156230 MESOMELIC DWARFISM OF HYPOPLASTIC TIBIA AND RADIUS TYPE ORPHA: 2633 MESOMELIC DWARFISM, NIEVERGELT TYPE OMIM: 250230 METAPHYSEAL CHONDRODYSPLASIA, KAITILA TYPE OMIM: METAPHYSEAL DYSOSTOSIS, MENTAL RETARDATION, AND 250420 CONDUCTIVE DEAFNESS ORPHA: MICROCEPHALIC PRIMORDIAL DWARFISM-INSULIN RESISTANCE NSMCE2 (286053), 436182 SYNDROME XRCC4 (7518) OMIM: 615877 MICROPHTHALMIA, SYNDROMIC 14 MAB21L2 (10586) OMIM: 601560 MULTIPLE EPIPHYSEAL DYSPLASIA WITH ROBIN PHENOTYPE ORPHA: 166016 MULTIPLE EPIPHYSEAL DYSPLASIA, LOWRY TYPE OMIM: 163400 NIEVERGELT SYNDROME

41 OMIM: 164745 OMODYSPLASIA OMIM: 258315 OMODYSPLASIA 1 GPC6 (10082) OMIM: 258480 INPPL1 (3636) , RHIZOMELIC, WITH CALLOSAL OMIM: AGENESIS, THROMBOCYTOPENIA,HYDROCEPHALUS, AND 166990 HYPERTENSION OMIM: OSTEOGENESIS IMPERFECTA CONGENITA, MICROCEPHALY, AND 259410 CATARACTS OMIM: OSTEOGENESIS IMPERFECTA, SILLENCE TYPE II/III, WITHOUT 259440 ABNORMALITYOF PPIB (5479) OMIM: COL1A1 (1277), 166210 OSTEOGENESIS IMPERFECTA, TYPE IIA COL1A2 (1278) OMIM: COL1A1 (1277), 259420 OSTEOGENESIS IMPERFECTA, TYPE III COL1A2 (1278) OMIM: 610682 OSTEOGENESIS IMPERFECTA, TYPE VII CRTAP (10491) OMIM: 610915 OSTEOGENESIS IMPERFECTA, TYPE VIII P3H1 (64175) ORPHA: 2645 OSTEOGLOPHONIC DWARFISM FGFR1 (2260) OMIM: 166250 OSTEOGLOPHONIC DYSPLASIA FGFR1 (2260) OMIM: 601803 PALLISTER-KILLIAN SYNDROME ORPHA:709 PETERS PLUS SYNDROME B3GLCT (145173) OMIM: 261540 PETERS-PLUS SYNDROME B3GLCT (145173) ORPHA: 85166 PLATYSPONDYLIC DYSPLASIA, TORRANCE TYPE COL2A1 (1280) OMIM: 151210 PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE COL2A1 (1280) ORPHA:750 COMP (1311) OMIM: 177170 PSEUDOACHONDROPLASIA COMP (1311) ORPHA: 85174 PSEUDODIASTROPHIC DYSPLASIA OMIM: 264180 PSEUDODIASTROPHIC DYSPLASIA ORPHA:177 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA OMIM: 215100 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 PEX7 (5191)

42 OMIM: 222765 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 GNPAT (8443) OMIM: 600121 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3 AGPS (8540) OMIM: 601438 RHIZOMELIC DYSPLASIA, PATTERSON-LOWRY TYPE ORPHA: 2831 RHIZOMELIC DYSPLASIA, PATTERSON-LOWRY TYPE OMIM: 610319 RHIZOMELIC DYSPLASIA, , AND RETINITIS PIGMENTOSA OMIM: 268250 RHIZOMELIC SYNDROME ORPHA: 3098 RHIZOMELIC SYNDROME, URBACH TYPE OMIM: WNT5A (7474), DVL1 180700 ROBINOW SYNDROME, AUTOSOMAL DOMINANT (1855) OMIM: 269250 SCHNECKENBECKEN DYSPLASIA SLC35D1 (23169) ORPHA: SLC35D1 (23169), 3144 SCHNECKENBECKEN DYSPLASIA INPPL1 (3636) ORPHA: 1505 SHORT RIB-POLYDACTYLY SYNDROME WDR34 (89891), WDR35 (57539), IFT80 (57560), WDR60 ORPHA: (55112), DYNC2H1 93271 SHORT RIB-POLYDACTYLY SYNDROME, VERMA-NAUMOFF TYPE (79659) OMIM: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR 602471 HYPOPLASIA, ANDSKELETAL ABNORMALITIES GSC (145258) OMIM: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT 614376 POLYDACTYLY WDR19 (57728) OMIM: SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS 602613 SYSTEM DEGENERATION, LETHAL ORPHA:818 SMITH-LEMLI-OPITZ SYNDROME DHCR7 (1717) ORPHA: 93357 SPONASTRIME DYSPLASIA OMIM: 183849 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH HYPOTRICHOSIS OMIM: 612813 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE ACAN (176) ORPHA: 93351 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, IRAPA TYPE OMIM: 608728 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED MATN3 (4148) OMIM: 601096 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MICROMELIC 43 OMIM: 602111 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE MMP13 (4322) OMIM: 271510 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE SPONDYLOEPIPHYSEAL DYSPLASIA AND ORPHA:253 SPONDYLOEPIMETAPHYSEAL DYSPLASIA OMIM: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT 143095 DISLOCATIONS CHST3 (9469) OMIM: SPONDYLOEPIPHYSEAL DYSPLASIA-BRACHYDACTYLY AND 611717 DISTINCTIVE SPEECH OMIM: 271665 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB- TYPE DDR2 (4921) ORPHA:254 SPONDYLOMETAPHYSEAL DYSPLASIA OMIM: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD 608940 DYSTROPHY PCYT1A (5130) OMIM: 611702 SPONDYLOMETAPHYSEAL DYSPLASIA, EAST AFRICAN TYPE OMIM: 250220 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE GPX4 (2879) ORPHA: 93317 SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE GPX4 (2879) OMIM: 609052 SPONDYLOMETAPHYSEAL DYSPLASIA, TYPE A4 ORPHA: SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY 85167 SYNDROME PCYT1A (5130) ORPHA: 2655 ORPHA: 1860 THANATOPHORIC DYSPLASIA TYPE 1 FGFR3 (2261) OMIM: 187600 THANATOPHORIC DYSPLASIA, TYPE I FGFR3 (2261) OMIM: 187601 THANATOPHORIC DYSPLASIA, TYPE II FGFR3 (2261) ORPHA: 1803 THORACOMELIC DYSPLASIA OMIM: 273740 THORACOMELIC DYSPLASIA OMIM: 191400 ULNA AND FIBULA, HYPOPLASIA OF OMIM: 277610 WEISSENBACHER-ZWEYMULLER SYNDROME COL11A2 (1302) ORPHA: 35173 X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA EBP (10682) ORPHA: X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE 163966 TYPE HDAC6 (10013) 44 45 Disproporonate Short Stature Associated Diseases (OMIM/ORPHA database Gene Search Summary)

Disease id Disease name Associated genes

ORPHA: 93298 SLC26A2 (1836) ORPHA: 93296 ACHONDROGENESIS TYPE 2 COL2A1 (1280) OMIM: 200600 ACHONDROGENESIS, TYPE IA TRIP11 (9321) OMIM: 600972 ACHONDROGENESIS, TYPE IB SLC26A2 (1836) OMIM: 200610 ACHONDROGENESIS, TYPE II COL2A1 (1280) OMIM: 100800 ACHONDROPLASIA FGFR3 (2261) ORPHA:15 ACHONDROPLASIA FGFR3 (2261) OMIM: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL 616482 DELAY AND ACANTHOSIS NIGRICANS FGFR3 (2261) OMIM: 607778 ACROCAPITOFEMORAL DYSPLASIA IHH (3549) OMIM: ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE 101800 RESISTANCE PRKAR1A (5573) ORPHA: 2098 ACROMESOMELIC DYSPLASIA, GREBE TYPE BMPR1B (658), GDF5 (8200) OMIM: ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON 201250 TYPE GDF5 (8200) ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON ORPHA:968 TYPE GDF5 (8200) ORPHA:40 ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE NPR2 (4882) OMIM: 602875 ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE NPR2 (4882) OMIM: 607095 ANAUXETIC DYSPLASIA RMRP (6023) OMIM: 611263 ASPHYXIATING THORACIC DYSTROPHY 2 IFT80 (57560) ORPHA: 85175 ASTLEY-KENDALL DYSPLASIA OMIM: 108720 ATELOSTEOGENESIS, TYPE I FLNB (2317) OMIM: 108721 ATELOSTEOGENESIS, TYPE III FLNB (2317)

46 AUTOSOMAL DOMINANT MYOPIA-MIDFACIAL ORPHA: RETRUSION-SENSORINEURAL HEARING LOSS- 440354 RHIZOMELIC DYSPLASIA SYNDROME COL11A1 (1301) ORPHA: 93328 AUTOSOMAL DOMINANT OMODYSPLASIA FZD2 (2535) ORPHA: 1507 AUTOSOMAL RECESSIVE ROBINOW SYNDROME ROR2 (4920) ORPHA: 168549 AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA OMIM: 300881 BARATELA-SCOTT SYNDROME ORPHA: 50945 BLOMSTRAND LETHAL CHONDRODYSPLASIA PTH1R (5745) OMIM: 605039 BOHRING-OPITZ SYNDROME ASXL1 (171023) ORPHA: 1842 BONE DYSPLASIA, LETHAL HOLMGREN TYPE ORPHA: 1263 BOOMERANG DYSPLASIA FLNB (2317) OMIM: 271530 BRACHYOLMIA TYPE 1, HOBAEK TYPE OMIM: 271630 BRACHYOLMIA TYPE 1, TOLEDO TYPE OMIM: 113500 BRACHYOLMIA TYPE 3 TRPV4 (59341) OMIM: 114290 CAMPOMELIC DYSPLASIA SOX9 (6662) OMIM: 250250 CARTILAGE-HAIR HYPOPLASIA RMRP (6023) ORPHA:175 CARTILAGE-HAIR HYPOPLASIA RMRP (6023) CHONDRODYSPLASIA WITH PLATYSPONDYLY, OMIM: DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND 300863 MICROPHTHALMIA HDAC6 (10013) OMIM: CHONDRODYSPLASIA, ACROMESOMELIC, WITH 609441 GENITAL ANOMALIES BMPR1B (658) OMIM: 200700 CHONDRODYSPLASIA, GREBE TYPE GDF5 (8200) ORPHA: 1453 CLEIDORHIZOMELIC SYNDROME OMIM: 119650 CLEIDORHIZOMELIC SYNDROME ORPHA: CLOVERLEAF SKULL-MULTIPLE CONGENITAL 93267 ANOMALIES SYNDROME OMIM: 611209 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIG COG1 (9382)

47 ORPHA: CONGENITAL OSTEOGENESIS IMPERFECTA- 2772 MICROCEPHALY-CATARACTS SYNDROME OMIM: 260660 COUSIN SYNDROME TBX15 (6913) WDR19 (57728), IFT43 (112752), ORPHA: WDR35 (57539), IFT122 (55764), 1515 CRANIOECTODERMAL DYSPLASIA IFT52 (51098) OMIM: 218330 CRANIOECTODERMAL DYSPLASIA 1 IFT122 (55764) OMIM: 613610 CRANIOECTODERMAL DYSPLASIA 2 WDR35 (57539) OMIM: 251450 DESBUQUOIS DYSPLASIA 1 CANT1 (124583) ORPHA: 1425 DESBUQUOIS SYNDROME XYLT1 (64131), CANT1 (124583) OMIM: 602398 DESMOSTEROLOSIS DHCR24 (1718) OMIM: 608022 DIAPHANOSPONDYLODYSOSTOSIS BMPER (168667) ORPHA:628 DIASTROPHIC DWARFISM SLC26A2 (1836) OMIM: 222600 DIASTROPHIC DYSPLASIA SLC26A2 (1836) OMIM: DISPROPORTIONATE SHORT STATURE WITH PTOSIS 126190 AND VALVULAR HEART LESIONS ORPHA: 3379 DISTAL TRISOMY 17Q OMIM: DWARFISM WITH STIFF JOINTS AND OCULAR 127200 ABNORMALITIES OMIM: 223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE DYM (54808) ORPHA:239 DYGGVE-MELCHIOR-CLAUSEN DISEASE DYM (54808) OMIM: 304950 DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED OMIM: 127350 DYSCHONDROSTEOSIS AND NEPHRITIS ORPHA: 1765 DYSCHONDROSTEOSIS-NEPHRITIS SYNDROME OMIM: 224300 DYSOSTEOSCLEROSIS OMIM: DYSSEGMENTAL DYSPLASIA, ROLLAND-DESBUQUOIS 224400 TYPE ORPHA: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER 1865 TYPE HSPG2 (3339) OMIM: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER 224410 TYPE HSPG2 (3339) 48 EVC2 (132884), EVC (2121), ORPHA:289 ELLIS VAN CREVELD SYNDROME DYNC2LI1 (51626) OMIM: 225500 ELLIS-VAN CREVELD SYNDROME EVC2 (132884), EVC (2121) OMIM: 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 COMP (1311) OMIM: 228520 FIBROCHONDROGENESIS 1 COL11A1 (1301) OMIM: FIBULAR HYPOPLASIA AND COMPLEX 228900 BRACHYDACTYLY GDF5 (8200) OMIM: 215140 GREENBERG DYSPLASIA LBR (3930) ORPHA: 1426 GREENBERG DYSPLASIA LBR (3930) ORPHA: 1354 HEART DEFECTS-LIMB SHORTENING SYNDROME ORPHA: 2130 HEMIMELIA ORPHA:429 HYPOCHONDROPLASIA FGFR3 (2261) OMIM: 146000 HYPOCHONDROPLASIA FGFR3 (2261) OMIM: 241500 HYPOPHOSPHATASIA, INFANTILE ALPL (249) OMIM: 242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE SMARCAL1 (50485) ORPHA: 63259 INIENCEPHALY ORPHA:485 KNIEST DYSPLASIA COL2A1 (1280) OMIM: 156550 KNIEST DYSPLASIA COL2A1 (1280) OMIM: 245190 KNIEST-LIKE DYSPLASIA, LETHAL ORPHA: 1801 KYPHOMELIC DYSPLASIA OMIM: 211350 KYPHOMELIC DYSPLASIA ORPHA: 2632 LANGER MESOMELIC DYSPLASIA SHOX (6473) OMIM: 249700 LANGER MESOMELIC DYSPLASIA OMIM: 127300 LERI-WEILL DYSCHONDROSTEOSIS ORPHA:240 LÉRI-WEILL DYSCHONDROSTEOSIS SHOX (6473)

49 DECIPHER: LERI-WEILL DYSCHONDROSTOSIS (LWD) - SHOX 58 DELETION ORPHA: 35688 MADELUNG DEFORMITY OMIM: 600383 MESOMELIA-SYNOSTOSES SYNDROME OMIM: MESOMELIC DWARFISM OF HYPOPLASTIC TIBIA AND 156230 RADIUS TYPE ORPHA: 2633 MESOMELIC DWARFISM, NIEVERGELT TYPE ORPHA: 2634 MESOMELIC DWARFISM, REINHARDT-PFEIFFER TYPE OMIM: 250230 METAPHYSEAL CHONDRODYSPLASIA, KAITILA TYPE OMIM: 250400 METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE MMP13 (4322) ORPHA: 2501 METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE MMP13 (4322) OMIM: METAPHYSEAL DYSOSTOSIS, MENTAL RETARDATION, 250420 AND CONDUCTIVE DEAFNESS ORPHA: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL 2637 DWARFISM TYPE II PCNT (5116) OMIM: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL 210710 DWARFISM, TYPE I RNU4ATAC (100151683) OMIM: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL 210720 DWARFISM, TYPE II PCNT (5116) ORPHA: MICROCEPHALIC PRIMORDIAL DWARFISM-INSULIN 436182 RESISTANCE SYNDROME NSMCE2 (286053), XRCC4 (7518) OMIM: 615877 MICROPHTHALMIA, SYNDROMIC 14 MAB21L2 (10586) ORPHA:583 TYPE 6 OMIM: 253010 MUCOPOLYSACCHARIDOSIS TYPE IVB GLB1 (2720) OMIM: 253200 MUCOPOLYSACCHARIDOSIS TYPE VI ARSB (411) OMIM: 253000 MUCOPOLYSACCHARIDOSIS, TYPE IVA GALNS (2588) OMIM: MULTIPLE EPIPHYSEAL DYSPLASIA WITH ROBIN 601560 PHENOTYPE ORPHA: 166016 MULTIPLE EPIPHYSEAL DYSPLASIA, LOWRY TYPE OMIM: 163400 NIEVERGELT SYNDROME OMIM: 164745 OMODYSPLASIA 50 OMIM: 258315 OMODYSPLASIA 1 GPC6 (10082) OMIM: 258480 OPSISMODYSPLASIA INPPL1 (3636) OSTEOCHONDRODYSPLASIA, RHIZOMELIC, WITH CALLOSAL AGENESIS, OMIM: THROMBOCYTOPENIA,HYDROCEPHALUS, AND 166990 HYPERTENSION OMIM: OSTEOGENESIS IMPERFECTA CONGENITA, 259410 MICROCEPHALY, AND CATARACTS OMIM: OSTEOGENESIS IMPERFECTA, SILLENCE TYPE II/III, 259440 WITHOUT ABNORMALITYOF TYPE I COLLAGEN PPIB (5479) OMIM: 166210 OSTEOGENESIS IMPERFECTA, TYPE IIA COL1A1 (1277), COL1A2 (1278) OMIM: 259420 OSTEOGENESIS IMPERFECTA, TYPE III COL1A1 (1277), COL1A2 (1278) OMIM: 610682 OSTEOGENESIS IMPERFECTA, TYPE VII CRTAP (10491) OMIM: 610915 OSTEOGENESIS IMPERFECTA, TYPE VIII P3H1 (64175) ORPHA: 2645 OSTEOGLOPHONIC DWARFISM FGFR1 (2260) OMIM: 166250 OSTEOGLOPHONIC DYSPLASIA FGFR1 (2260) OMIM: 601803 PALLISTER-KILLIAN SYNDROME ORPHA:709 PETERS PLUS SYNDROME B3GLCT (145173) OMIM: 261540 PETERS-PLUS SYNDROME B3GLCT (145173) ORPHA: 2879 PHOCOMELIA, SCHINZEL TYPE WNT7A (7476) ORPHA: 85166 PLATYSPONDYLIC DYSPLASIA, TORRANCE TYPE COL2A1 (1280) OMIM: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, 151210 TORRANCE TYPE COL2A1 (1280) ORPHA:750 PSEUDOACHONDROPLASIA COMP (1311) OMIM: 177170 PSEUDOACHONDROPLASIA COMP (1311) ORPHA: 85174 PSEUDODIASTROPHIC DYSPLASIA OMIM: 264180 PSEUDODIASTROPHIC DYSPLASIA ORPHA:177 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA OMIM: 215100 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 PEX7 (5191) 51 OMIM: 222765 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 GNPAT (8443) OMIM: 600121 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3 AGPS (8540) ORPHA: 2831 RHIZOMELIC DYSPLASIA, PATTERSON-LOWRY TYPE OMIM: 601438 RHIZOMELIC DYSPLASIA, PATTERSON-LOWRY TYPE OMIM: RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS 610319 PIGMENTOSA OMIM: 268250 RHIZOMELIC SYNDROME ORPHA: 3098 RHIZOMELIC SYNDROME, URBACH TYPE OMIM: 180700 ROBINOW SYNDROME, AUTOSOMAL DOMINANT WNT5A (7474), DVL1 (1855) OMIM: 300258 ROIFMAN SYNDROME ORPHA: 1830 SCHIMKE IMMUNO-OSSEOUS DYSPLASIA SMARCAL1 (50485) OMIM: 269250 SCHNECKENBECKEN DYSPLASIA SLC35D1 (23169) ORPHA: 3144 SCHNECKENBECKEN DYSPLASIA SLC35D1 (23169), INPPL1 (3636) ORPHA: 1505 SHORT RIB-POLYDACTYLY SYNDROME WDR34 (89891), WDR35 (57539), ORPHA: SHORT RIB-POLYDACTYLY SYNDROME, VERMA- IFT80 (57560), WDR60 (55112), 93271 NAUMOFF TYPE DYNC2H1 (79659) SHORT STATURE, AUDITORY CANAL ATRESIA, OMIM: MANDIBULAR HYPOPLASIA, ANDSKELETAL 602471 ABNORMALITIES GSC (145258) OMIM: SHORT STATURE, ONYCHODYSPLASIA, FACIAL 614813 DYSMORPHISM, AND HYPOTRICHOSIS POC1A (25886) ORPHA: SHORT STATURE-VALVULAR HEART DISEASE- 2868 CHARACTERISTIC FACIES SYNDROME OMIM: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT 614376 POLYDACTYLY WDR19 (57728) OMIM: SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL 602613 NERVOUS SYSTEM DEGENERATION, LETHAL ORPHA:818 SMITH-LEMLI-OPITZ SYNDROME DHCR7 (1717) OMIM: 607326 SMITH-MCCORT DYSPLASIA 1 DYM (54808) OMIM: 615222 SMITH-MCCORT DYSPLASIA 2 RAB33B (83452)

52 ORPHA: 93357 SPONASTRIME DYSPLASIA OMIM: 272460 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME FLNB (2317) OMIM: SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL 608681 RECESSIVE MESP2 (145873) OMIM: SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL 122600 DOMINANT TBX6 (6911) OMIM: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL 277300 RECESSIVE 1 MESP2 (145873), DLL3 (10683) ORPHA: SPONDYLOCOSTAL DYSOSTOSIS-ANAL AND 94095 GENITOURINARY MALFORMATIONS SYNDROME ORPHA: SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, 93346 STRUDWICK TYPE COL2A1 (1280) OMIM: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH 183849 HYPOTRICHOSIS OMIM: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN 612813 TYPE ACAN (176) ORPHA: 93351 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, IRAPA TYPE OMIM: 271650 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, IRAPA TYPE OMIM: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 608728 RELATED MATN3 (4148) OMIM: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, 601096 MICROMELIC OMIM: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI 602111 TYPE MMP13 (4322) OMIM: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT 602557 TYPE OMIM: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, 271510 SPONASTRIME TYPE OMIM: 300106 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED BGN (633) SPONDYLOEPIPHYSEAL DYSPLASIA AND ORPHA:253 SPONDYLOEPIMETAPHYSEAL DYSPLASIA OMIM: 183900 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA COL2A1 (1280) ORPHA: 93284 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA TRAPPC2 (6399) OMIM: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, 184100 AUTOSOMAL DOMINANT OMIM: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, 609223 AUTOSOMAL RECESSIVE, LEROY-SPRANGERTYPE

53 OMIM: 313400 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED TRAPPC2 (6399) OMIM: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL 143095 JOINT DISLOCATIONS CHST3 (9469) OMIM: SPONDYLOEPIPHYSEAL DYSPLASIA-BRACHYDACTYLY 611717 AND DISTINCTIVE SPEECH SPONDYLOMEGAEPIPHYSEAL DYSPLASIA WITH UPPER OMIM: LIMB MESOMELIA, PUNCTATECALCIFICATIONS, AND 609616 DEAFNESS OMIM: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL 613330 DYSPLASIA NKX3-2 (579) OMIM: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT 271665 LIMB-HAND TYPE DDR2 (4921) ORPHA:254 SPONDYLOMETAPHYSEAL DYSPLASIA OMIM: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE- 608940 ROD DYSTROPHY PCYT1A (5130) OMIM: SPONDYLOMETAPHYSEAL DYSPLASIA, EAST AFRICAN 611702 TYPE OMIM: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI 184252 TYPE TRPV4 (59341) OMIM: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN 250220 TYPE GPX4 (2879) ORPHA: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN 93317 TYPE GPX4 (2879) OMIM: 609052 SPONDYLOMETAPHYSEAL DYSPLASIA, TYPE A4 ORPHA: SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD 85167 DYSTROPHY SYNDROME PCYT1A (5130) ORPHA: 85194 SPONDYLO-OCULAR SYNDROME XYLT2 (64132) ORPHA: 2655 THANATOPHORIC DYSPLASIA ORPHA: 1860 THANATOPHORIC DYSPLASIA TYPE 1 FGFR3 (2261) OMIM: 187600 THANATOPHORIC DYSPLASIA, TYPE I FGFR3 (2261) OMIM: 187601 THANATOPHORIC DYSPLASIA, TYPE II FGFR3 (2261) ORPHA: 1803 THORACOMELIC DYSPLASIA OMIM: 273740 THORACOMELIC DYSPLASIA OMIM: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB 276820 DEFICIENCY WNT7A (7476)

54 OMIM: 191400 ULNA AND FIBULA, HYPOPLASIA OF OMIM: 277610 WEISSENBACHER-ZWEYMULLER SYNDROME COL11A2 (1302) ORPHA: 35173 X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA EBP (10682) ORPHA: X-LINKED DOMINANT CHONDRODYSPLASIA, 163966 CHASSAING-LACOMBE TYPE HDAC6 (10013)

Disproporonate Short Trunk Short Stature (OMIM/ORPHA database Gene Search Summary)

Disease Disease name Associated genes id

OMIM: 200600 ACHONDROGENESIS, TYPE IA TRIP11 (9321) OMIM: 200610 ACHONDROGENESIS, TYPE II COL2A1 (1280) OMIM: 271530 BRACHYOLMIA TYPE 1, HOBAEK TYPE OMIM: 271630 BRACHYOLMIA TYPE 1, TOLEDO TYPE OMIM: 113500 BRACHYOLMIA TYPE 3 TRPV4 (59341) OMIM: 608022 DIAPHANOSPONDYLODYSOSTOSIS BMPER (168667) OMIM: 223800 DYGGVE-MELCHIOR-CLAUSEN DISEASE DYM (54808) ORPHA: 239 DYGGVE-MELCHIOR-CLAUSEN DISEASE DYM (54808) OMIM: 304950 DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED OMIM: 242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE SMARCAL1 (50485) ORPHA: 485 KNIEST DYSPLASIA COL2A1 (1280) OMIM: 156550 KNIEST DYSPLASIA COL2A1 (1280) ORPHA: 583 MUCOPOLYSACCHARIDOSIS TYPE 6 OMIM: 253010 MUCOPOLYSACCHARIDOSIS TYPE IVB GLB1 (2720) OMIM: 253200 MUCOPOLYSACCHARIDOSIS TYPE VI ARSB (411)

55 OMIM: 253000 MUCOPOLYSACCHARIDOSIS, TYPE IVA GALNS (2588) OMIM: 300258 ROIFMAN SYNDROME ORPHA: 1830 SCHIMKE IMMUNO-OSSEOUS DYSPLASIA SMARCAL1 (50485) OMIM: 607326 SMITH-MCCORT DYSPLASIA 1 DYM (54808) OMIM: 615222 SMITH-MCCORT DYSPLASIA 2 RAB33B (83452) OMIM: 272460 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME FLNB (2317) OMIM: 608681 SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE MESP2 (145873) OMIM: 122600 SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL DOMINANT TBX6 (6911) OMIM: 277300 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1 MESP2 (145873), DLL3 (10683) ORPHA: SPONDYLOCOSTAL DYSOSTOSIS-ANAL AND GENITOURINARY 94095 MALFORMATIONS SYNDROME OMIM: 271650 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, IRAPA TYPE OMIM: 300106 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED BGN (633) OMIM: 183900 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA COL2A1 (1280) OMIM: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL 184100 DOMINANT OMIM: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL 609223 RECESSIVE, LEROY-SPRANGERTYPE OMIM: 313400 SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED TRAPPC2 (6399) OMIM: 613330 SPONDYLO-MEGAEPIPHYSEAL- NKX3-2 (579) OMIM: 184252 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE TRPV4 (59341) ORPHA: 85194 SPONDYLO-OCULAR SYNDROME XYLT2 (64132)

Dysplasias (OMIM/ORPHA database Gene Search Summary)

Disease name Associated genes

56 ACHONDROGENESIS ACHONDROGENESIS TYPE 1A TRIP11 (9321) ACHONDROGENESIS TYPE 1B SLC26A2 (1836) ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS FGFR3 (2261) ACROMICRIC DYSPLASIA LTBP3 (4054), FBN1 (2200) ACROMICRIC DYSPLASIA FBN1 (2200) ALANINURIA WITH MICROCEPHALY, DWARFISM, ENAMEL HYPOPLASIA, AND DIABETESMELLITUS ALAZAMI SYNDROME LARP7 (51574) ALOPECIA-CONTRACTURES-DWARFISM MENTAL RETARDATION SYNDROME ALOPECIA-CONTRACTURES-DWARFISM-INTELLECTUAL DISABILITY SYNDROME AMINO ACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR DYSTROPHY,OSTEOPOROSIS, AND ACIDOSIS AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS TBX6 (6911) BIRD HEADED-DWARFISM, MONTREAL TYPE BIRD-HEADED DWARFISM WITH PROGRESSIVE ATAXIA, INSULIN-RESISTANT DIABETES,GOITER, AND PRIMARY GONADAL INSUFFICIENCY BOOMERANG DYSPLASIA FLNB (2317) BRACHYDACTYLOUS DWARFISM, MSELENI TYPE BULLOUS DYSTROPHY, HEREDITARY MACULAR TYPE CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1 ATP8B1 (5205) CHONDRODYSPLASIA CALCIFICANS METAPHYSEALIS CHONDRODYSPLASIA-DISORDER OF SEX DEVELOPMENT SYNDROME HHAT (55733) CHONDRODYSPLASIA-PSEUDOHERMAPHRODITISM SYNDROME CLEIDOCRANIAL DYSPLASIA, RECESSIVE FORM COCKAYNE SYNDROME, TYPE B ERCC6 (2074) COCKAYNE SYNDROME, TYPE III CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA ALDH18A1 (5832) DE SANCTIS-CACCHIONE SYNDROME ERCC6 (2074) DESBUQUOIS DYSPLASIA 1 CANT1 (124583) XYLT1 (64131), CANT1 DESBUQUOIS SYNDROME (124583) DISTAL TRISOMY 17Q DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES DWARFISM WITH TALL VERTEBRAE DWARFISM, FAMILIAL, WITH MUSCLE SPASMS

57 DWARFISM, LEVI TYPE DWARFISM, LOW-BIRTH-WEIGHT TYPE, WITH UNRESPONSIVENESS TO GROWTH HORMONE DWARFISM, MENTAL RETARDATION, AND EYE ABNORMALITY DWARFISM, PROPORTIONATE, WITH HIP DISLOCATION DYSSEGMENTAL DYSPLASIA, ROLLAND-DESBUQUOIS TYPE ENCEPHALOPATHY WITH INTRACRANIAL CALCIFICATION, GROWTH HORMONE DEFICIENCY,MICROCEPHALY, AND RETINAL DEGENERATION GERODERMA OSTEODYSPLASTICA GORAB (92344) PYCR1 (5831), GORAB GERODERMA OSTEODYSPLASTICA (92344) GM1-GANGLIOSIDOSIS, TYPE I GLB1 (2720) GROWTH HORMONE INSENSITIVITY SYNDROME GHR (2690) GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY STAT5B (6777) ICHTHYOSIS, MENTAL RETARDATION, DWARFISM, AND RENAL IMPAIRMENT ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II GH1 (2688) KENNY-CAFFEY SYNDROME, TYPE 2 FAM111A (63901) KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY LANGER MESOMELIC DYSPLASIA SHOX (6473) LARON SYNDROME GHR (2690) MEGAEPIPHYSEAL DWARFISM METAPHYSEAL ACROSCYPHODYSPLASIA METAPHYSEAL ACROSCYPHODYSPLASIA METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE PTH1R (5745) METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS RMRP (6023) METATROPIC DYSPLASIA TRPV4 (59341) METATROPIC DYSPLASIA TRPV4 (59341) MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III MICROCEPHALIC PRIMORDIAL DWARFISM, MONTREAL TYPE MICROCEPHALIC PRIMORDIAL DWARFISM, TORIELLO TYPE MICROCEPHALIC PRIMORDIAL DWARFISM, TORIELLO TYPE MORQUIO SYNDROME C MUCOPOLYSACCHARIDOSIS TYPE 2 MUCOPOLYSACCHARIDOSIS TYPE II IDS (3423) NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY CTSA (5476) OPSISMODYSPLASIA INPPL1 (3636) OSTEOGLOPHONIC DWARFISM FGFR1 (2260) 58 TRPV4 (59341) PITUITARY DWARFISM I GH1 (2688) PSEUDODIASTROPHIC DYSPLASIA RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 PEX7 (5191) SECKEL SYNDROME 7 NIN (51199) SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES CRIPT (9419) SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS DLX5 (1749) SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL DOMINANT TBX6 (6911) MESP2 (145873), DLL3 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1 (10683) SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES B3GALT6 (126792) SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE COL2A1 (1280) SPONDYLOMETAPHYSEAL DYSPLASIA, A4 TYPE SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE SPONDYLOMETAPHYSEAL DYSPLASIA, TYPE A4 SPONDYLOMETAPHYSEAL DYSPLASIA, X-LINKED SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME PCYT1A (5130) SYNDESMODYSPLASIC DWARFISM SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM THANATOPHORIC DYSPLASIA, TYPE I FGFR3 (2261) TRICHOMEGALY WITH MENTAL RETARDATION, DWARFISM, AND PIGMENTARY DEGENERATION PNPLA6 (10908) TRYPTOPHANURIA WITH DWARFISM WEISMANN-NETTER SYNDROME WEISMANN-NETTER SYNDROME XFE PROGEROID SYNDROME ERCC4 (2072)

Proporonate Short Stature Associated Diseases (OMIM/ORPHA database Gene Search Summary)

Disease id Disease name Associated genes

DECIPHER: 76 12Q14 MICRODELETION SYNDROME

59 OMIM: 100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT OMIM: 305400 AARSKOG-SCOTT SYNDROME FGD1 (2245) ORPHA:932 ACHONDROGENESIS ORPHA: 93299 ACHONDROGENESIS TYPE 1A TRIP11 (9321) ORPHA: 93298 ACHONDROGENESIS TYPE 1B SLC26A2 (1836) OMIM: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND 616482 ACANTHOSIS NIGRICANS FGFR3 (2261) OMIM: 614613 ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE PDE4D (5144) ORPHA: PRKAR1A (5573), 280651 ACRODYSOSTOSIS WITH MULTIPLE HORMONE RESISTANCE PDE4D (5144) EVC2 (132884), EVC ORPHA:952 ACROFACIAL DYSOSTOSIS, WEYERS TYPE (2121) OMIM: 102370 ACROMICRIC DYSPLASIA FBN1 (2200) LTBP3 (4054), FBN1 ORPHA:969 ACROMICRIC DYSPLASIA (2200) OMIM: ALANINURIA WITH MICROCEPHALY, DWARFISM, ENAMEL 202900 HYPOPLASIA, AND DIABETESMELLITUS OMIM: 615071 ALAZAMI SYNDROME LARP7 (51574) OMIM: ALOPECIA-CONTRACTURES-DWARFISM MENTAL RETARDATION 203550 SYNDROME ORPHA: ALOPECIA-CONTRACTURES-DWARFISM-INTELLECTUAL DISABILITY 1005 SYNDROME OMIM: AMINO ACIDURIA WITH MENTAL DEFICIENCY, DWARFISM, MUSCULAR 204730 DYSTROPHY,OSTEOPOROSIS, AND ACIDOSIS ORPHA: 1797 AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS TBX6 (6911) OMIM: 300881 BARATELA-SCOTT SYNDROME ORPHA: 2617 BIRD HEADED-DWARFISM, MONTREAL TYPE BIRD-HEADED DWARFISM WITH PROGRESSIVE ATAXIA, INSULIN- OMIM: RESISTANT DIABETES,GOITER, AND PRIMARY GONADAL 210740 INSUFFICIENCY OMIM: 112310 BOOMERANG DYSPLASIA FLNB (2317) OMIM: 613342 BRACHYDACTYLOUS DWARFISM, MSELENI TYPE

60 OMIM: 301940 BRACHYDACTYLY, MONONEN TYPE OMIM: 113300 BRACHYDACTYLY, TYPE E HOXD13 (3239) ORPHA: 1293 BRACHYOLMIA OMIM: 302000 BULLOUS DYSTROPHY, HEREDITARY MACULAR TYPE ORPHA:759 CENTRAL PRECOCIOUS PUBERTY OMIM: 211600 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1 ATP8B1 (5205) OMIM: 215050 CHONDRODYSPLASIA CALCIFICANS METAPHYSEALIS ORPHA: CHONDRODYSPLASIA-DISORDER OF SEX DEVELOPMENT 1422 SYNDROME HHAT (55733) OMIM: 600092 CHONDRODYSPLASIA-PSEUDOHERMAPHRODITISM SYNDROME OMIM: 119600 CLEIDOCRANIAL DYSPLASIA RUNX2 (860) OMIM: 216330 CLEIDOCRANIAL DYSPLASIA, RECESSIVE FORM OMIM: 133540 COCKAYNE SYNDROME, TYPE B ERCC6 (2074) OMIM: 216411 COCKAYNE SYNDROME, TYPE III OMIM: 219150 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA ALDH18A1 (5832) OMIM: 278800 DE SANCTIS-CACCHIONE SYNDROME ERCC6 (2074) ORPHA: 99688 DERMOTRICHIC SYNDROME OMIM: 251450 DESBUQUOIS DYSPLASIA 1 CANT1 (124583) ORPHA: XYLT1 (64131), CANT1 1425 DESBUQUOIS SYNDROME (124583) OMIM: 126050 DIGITOTALAR DYSMORPHISM OMIM: DISLOCATION OF HIP, CONGENITAL, WITH HYPEREXTENSIBILITY OF 601450 FINGERSAND FACIAL DYSMORPHISM ORPHA: 3379 DISTAL TRISOMY 17Q ORPHA: 50817 DUANE ANOMALY-MYOPATHY-SCOLIOSIS SYNDROME OMIM: 127200 DWARFISM WITH STIFF JOINTS AND OCULAR ABNORMALITIES 61 OMIM: 126950 DWARFISM WITH TALL VERTEBRAE OMIM: 600771 DWARFISM, FAMILIAL, WITH MUSCLE SPASMS OMIM: 127100 DWARFISM, LEVI TYPE OMIM: DWARFISM, LOW-BIRTH-WEIGHT TYPE, WITH UNRESPONSIVENESS 223500 TO GROWTH HORMONE OMIM: 223540 DWARFISM, MENTAL RETARDATION, AND EYE ABNORMALITY OMIM: 223550 DWARFISM, PROPORTIONATE, WITH HIP DISLOCATION OMIM: 224400 DYSSEGMENTAL DYSPLASIA, ROLLAND-DESBUQUOIS TYPE ORPHA: 157965 EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE SLC39A13 (91252) OMIM: COL1A1 (1277), 130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT COL1A2 (1278) ENCEPHALOPATHY WITH INTRACRANIAL CALCIFICATION, GROWTH OMIM: HORMONE DEFICIENCY,MICROCEPHALY, AND RETINAL 225755 DEGENERATION OMIM: 132400 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 COMP (1311) OMIM: 600204 EPIPHYSEAL DYSPLASIA, MULTIPLE, 2 COL9A2 (1298) OMIM: 600969 EPIPHYSEAL DYSPLASIA, MULTIPLE, 3 COL9A3 (1299) OMIM: 227330 FACIODIGITOGENITAL SYNDROME, AUTOSOMAL RECESSIVE ORPHA: PYCR1 (5831), 2078 GERODERMA OSTEODYSPLASTICA GORAB (92344) OMIM: 231070 GERODERMA OSTEODYSPLASTICA GORAB (92344) OMIM: 230500 GM1-GANGLIOSIDOSIS, TYPE I GLB1 (2720) OMIM: 138770 GMS SYNDROME OMIM: 262500 GROWTH HORMONE INSENSITIVITY SYNDROME GHR (2690) OMIM: 245590 GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY STAT5B (6777) OMIM: 234100 HALLERMANN-STREIFF SYNDROME ORPHA: 2108 HALLERMANN-STREIFF SYNDROME

62 OMIM: ICHTHYOSIS, MENTAL RETARDATION, DWARFISM, AND RENAL 242530 IMPAIRMENT OMIM: 173100 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II GH1 (2688) OMIM: 244460 KENNY-CAFFEY SYNDROME, TYPE 1 TBCE (6905) OMIM: 127000 KENNY-CAFFEY SYNDROME, TYPE 2 FAM111A (63901) OMIM: 308830 KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY OMIM: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH 616549 MYOPATHY AND FACIALDYSMORPHISM MYO18B (84700) ORPHA: 2632 LANGER MESOMELIC DYSPLASIA SHOX (6473) ORPHA:633 LARON SYNDROME GHR (2690) OMIM: 249230 MEGAEPIPHYSEAL DWARFISM ORPHA: 1240 METAPHYSEAL ACROSCYPHODYSPLASIA OMIM: 250215 METAPHYSEAL ACROSCYPHODYSPLASIA OMIM: 156400 METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE PTH1R (5745) OMIM: 156500 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE COL10A1 (1300) ORPHA:174 METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE COL10A1 (1300) OMIM: 250460 METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS RMRP (6023) OMIM: 156530 METATROPIC DYSPLASIA TRPV4 (59341) ORPHA: 2635 METATROPIC DYSPLASIA TRPV4 (59341) OMIM: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 210730 III OMIM: 210700 MICROCEPHALIC PRIMORDIAL DWARFISM, MONTREAL TYPE ORPHA: 2643 MICROCEPHALIC PRIMORDIAL DWARFISM, TORIELLO TYPE OMIM: 251190 MICROCEPHALIC PRIMORDIAL DWARFISM, TORIELLO TYPE OMIM: 252300 MORQUIO SYNDROME C ORPHA:580 MUCOPOLYSACCHARIDOSIS TYPE 2

63 OMIM: 309900 MUCOPOLYSACCHARIDOSIS TYPE II IDS (3423) ORPHA: 93308 MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 COMP (1311) OMIM: NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE 256540 DEFICIENCY CTSA (5476) ORPHA: 2746 OPSISMODYSPLASIA INPPL1 (3636) ORPHA: 2645 OSTEOGLOPHONIC DWARFISM FGFR1 (2260) OMIM: 168400 PARASTREMMATIC DWARFISM TRPV4 (59341) OMIM: 169400 PELGER-HUET ANOMALY LBR (3930) OMIM: 262400 PITUITARY DWARFISM I GH1 (2688) OMIM: 614833 POLYMICROGYRIA WITH SEIZURES RTTN (25914) OMIM: 264180 PSEUDODIASTROPHIC DYSPLASIA OMIM: 268050 RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION OMIM: 215100 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 PEX7 (5191) OMIM: 210600 SECKEL SYNDROME 1 ATR (545) OMIM: 614851 SECKEL SYNDROME 7 NIN (51199) OMIM: 609654 SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS OMIM: 615789 SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES CRIPT (9419) ORPHA: 79132 SPARSE HAIR-SHORT STATURE-SKIN ANOMALIES SYNDROME OMIM: SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL 220600 HEARING LOSS DLX5 (1749) OMIM: 612350 SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE SLC39A13 (91252) OMIM: 122600 SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL DOMINANT TBX6 (6911) OMIM: MESP2 (145873), 277300 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1 DLL3 (10683) OMIM: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL 601668 DENTITION

64 OMIM: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 271640 1, WITH OR WITHOUT FRACTURES B3GALT6 (126792) ORPHA: 93352 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE OMIM: 184250 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE COL2A1 (1280) OMIM: 608361 SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE ACAN (176) ORPHA: 93283 SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE ACAN (176) ORPHA: 168555 SPONDYLOMETAPHYSEAL DYSPLASIA, A4 TYPE OMIM: 184253 SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE ORPHA: 93315 SPONDYLOMETAPHYSEAL DYSPLASIA, 'CORNER FRACTURE' TYPE COL2A1 (1280) OMIM: 609052 SPONDYLOMETAPHYSEAL DYSPLASIA, TYPE A4 OMIM: 313420 SPONDYLOMETAPHYSEAL DYSPLASIA, X-LINKED ORPHA: SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY 85167 SYNDROME PCYT1A (5130) OMIM: 272450 SYNDESMODYSPLASIC DWARFISM OMIM: 186575 SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM OMIM: 187600 THANATOPHORIC DYSPLASIA, TYPE I FGFR3 (2261) OMIM: TRICHOMEGALY WITH MENTAL RETARDATION, DWARFISM, AND 275400 PIGMENTARY DEGENERATION PNPLA6 (10908) OMIM: 276100 TRYPTOPHANURIA WITH DWARFISM OMIM: 608328 WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT FBN1 (2200) OMIM: 277600 WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE ADAMTS10 (81794) ORPHA: 3344 WEISMANN-NETTER SYNDROME OMIM: 112350 WEISMANN-NETTER SYNDROME OMIM: EVC2 (132884), EVC 193530 WEYERS ACROFACIAL DYSOSTOSIS (2121) OMIM: 314570 WIDOW'

65 OMIM: 610965 XFE PROGEROID SYNDROME ERCC4 (2072)

66 Growth Hormone Deficiency (OMIM/ORPHA database Gene Search Summary)

Disease id Disease name Associated genes

OMIM: 203800 ALSTROM SYNDROME ALMS1 (7840) OMIM: ANTERIOR CHAMBER CLEAVAGE DISORDER, CEREBELLAR 601427 HYPOPLASIA, HYPOTHYROIDISM, AND TRACHEAL STENOSIS OMIM: ARTHROGRYPOSIS, DISTAL, WITH HYPOPITUITARISM, MENTAL 208080 RETARDATION,AND FACIAL ANOMALIES ORPHA: AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 276580 DEFICIENCY KCNJ11 (3767) ORPHA: AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 276575 DEFICIENCY ABCC8 (6833) OMIM: 180500 AXENFELD-RIEGER SYNDROME, TYPE 1 PITX2 (5308) ORPHA:1261 BONNEMANN-MEINECKE-REICH SYNDROME ORPHA:1263 BOOMERANG DYSPLASIA FLNB (2317) CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY ORPHA: NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL 436174 DYSPLASIA SYNDROME IARS2 (55699) CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY OMIM: NEUROPATHY, SENSORINEURAL HEARING LOSS, AND 616007 SKELETAL DYSPLASIA IARS2 (55699) OMIM: 601853 CEREBELLOTRIGEMINAL DERMAL DYSPLASIA OMIM: CHD7 (55636), SEMA3E 214800 CHARGE SYNDROME (9723) OMIM: CHROMOSOME 15Q24 DELETION SYNDROMECHROMOSOME 613406 15Q24 DUPLICATION SYNDROME, INCLUDED SIN3A (25942) OMIM: 601808 CHROMOSOME 18Q DELETION SYNDROME OMIM: CLEFT LIP/PALATE WITH ABNORMAL THUMBS AND 216100 MICROCEPHALY OMIM: 216550 COHEN SYNDROME VPS13B (157680) OMIM: 616430 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 MARS2 (92935) GLI2 (2736), HESX1 (8820), OTX2 (5015), POU1F1 ORPHA: COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC (5449), PROP1 (5626), LHX4 95494 FORMS (89884) OMIM: 122560 CORTICOTROPIN-RELEASING HORMONE 67 OMIM: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND 213980 MENTAL RETARDATION SYNDROME OMIM: 221750 DEAFNESS, SENSORINEURAL, WITH PITUITARY DWARFISM LHX3 (8022) ORPHA: DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE 293978 IMMUNODEFICIENCY SYNDROME NFKB2 (4791) OMIM: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/ 129900 PALATE SYNDROME1 OMIM: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/ 604292 PALATE SYNDROME3 TP63 (8626) ORPHA:1896 EEC SYNDROME TP63 (8626) ENCEPHALOPATHY WITH INTRACRANIAL CALCIFICATION, OMIM: GROWTH HORMONE DEFICIENCY,MICROCEPHALY, AND 225755 RETINAL DEGENERATION ORPHA: 91348 FUNCTIONING GONADOTROPIC ADENOMA OMIM: 615925 GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL OMIM: GROWTH HORMONE INSENSITIVITY WITH 245590 IMMUNODEFICIENCY STAT5B (6777) OMIM: 602782 HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME SLC29A3 (55315) OMIM: 610829 HOLOPROSENCEPHALY 9 GLI2 (2736) ORPHA: 276556 HYPERINSULINISM DUE TO UCP2 DEFICIENCY UCP2 (7351) OMIM: 606407 HYPOTONIA-CYSTINURIA SYNDROME OMIM: 615577 IMMUNODEFICIENCY, COMMON VARIABLE, 10 NFKB2 (4791) INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL OMIM: DYSPLASIA, ADRENAL HYPOPLASIACONGENITA, AND GENITAL 614732 ANOMALIES CDKN1C (1028) OMIM: 612781 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB GH1 (2688), GHRHR (2692) OMIM: 173100 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II GH1 (2688) OMIM: 307200 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III BTK (695) OMIM: 614963 LEPTIN RECEPTOR DEFICIENCY LEPR (3953) MENTAL RETARDATION, X-LINKED, WITH OMIM: PANHYPOPITUITARISMMENTAL RETARDATION, X-LINKED, 300123 WITH ISOLATED GROWTH HORMONE DEFICIENCY,INCLUDED SOX3 (6658) ORPHA:1600 MONOSOMY 18Q

68 OMIM: 614114 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 CEP57 (9702) MOYAMOYA DISEASE 4 WITH SHORT STATURE, OMIM: HYPERGONADOTROPIC HYPOGONADISM,AND FACIAL 300845 DYSMORPHISM ORPHA:2676 NEUROECTODERMAL-ENDOCRINE SYNDROME ORPHA: NON-ACQUIRED COMBINED PITUITARY HORMONE 231720 DEFICIENCY WITH SPINE ABNORMALITIES LHX3 (8022) ORPHA: 91349 NON-FUNCTIONING PITUITARY ADENOMA OMIM: 146510 PALLISTER-HALL SYNDROME GLI3 (2737) ORPHA: 90695 PANHYPOPITUITARISM SOX3 (6658), PROP1 (5626) OMIM: 312000 PANHYPOPITUITARISM, X-LINKED SOX3 (6658) ORPHA: 251623 PITUICYTOMA OMIM: 262400 PITUITARY DWARFISM I GH1 (2688) OMIM: 262650 PITUITARY DWARFISM IV GH1 (2688) OMIM: 262710 PITUITARY DWARFISM WITH LARGE SELLA TURCICA OMIM: 262700 PITUITARY DWARFISM WITH SMALL SELLA TURCICA LHX4 (89884) MKRN3 (7681), SNORD116-1 (100033413), SNORD115-1 (338433), NDN (4692), IPW (3653), PWRN1 (791114), MAGEL2 (54551), PWAR1 (145624), MKRN3-AS1 (10108), HERC2 (8924), OMIM: NPAP1 (23742), SNRPN 176270 PRADER-WILLI SYNDROME (6638) ORPHA:2965 PROLACTINOMA AIP (9049), MEN1 (4221) OMIM: PSEUDOPAPILLEDEMA, OCULAR HYPOTELORISM, 264475 BLEPHAROPHIMOSIS, AND HANDANOMALIES RAPID-ONSET CHILDHOOD OBESITY-HYPOTHALAMIC ORPHA: DYSFUNCTION-HYPOVENTILATION-AUTONOMIC 293987 DYSREGULATION SYNDROME OMIM: 602152 RHYNS SYNDROME OMIM: 220210 RITSCHER-SCHINZEL SYNDROME WASHC5 (9897) OMIM: 182230 SEPTOOPTIC DYSPLASIA HESX1 (8820)

69 OMIM: 180860 SILVER-RUSSELL SYNDROME H19 (283120), IGF2 (3481) OMIM: 147250 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SHH (6469) OMIM: TRICHOMEGALY WITH MENTAL RETARDATION, DWARFISM, 275400 AND PIGMENTARY DEGENERATION PNPLA6 (10908) ORPHA: 91347 TSH-SECRETING PITUITARY ADENOMA OMIM: 615926 WEBB-DATTANI SYNDROME ARNT2 (9915)

Growth Hormone Deficiency Search Results via Monarch hps://monarchiniave.org/search/growth%20hormone%20deficiency “Types” Category Search term "growth hormone deficiency". A total of 8144 matches were returned which began as follows: Secondary growth hormone deficiency Phenotype isolated growth hormone deficiency disease Growth hormone deficiency Phenotype Isolated Growth Hormone Deficiency disease isolated growth hormone deficiency type IA disease isolated growth hormone deficiency type II disease isolated growth hormone deficiency type IB disease isolated growth hormone deficiency type III disease Growth Hormone Deficiency With Pituitary Anomalies disease X-linked intellectual disability with isolated growth hormone deficiency disease Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia disease Mental Retardaon, X-Linked, with Isolated Growth Hormone Deficiency disease Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia disease Short stature due to GHSR deficiency disease Dwarfism, Pituitary disease Short Stature, Idiopathic, Autosomal disease Short stature-wormian bones-dextrocardia syndrome disease septoopc dysplasia disease Growth hormone insensivity syndrome disease Mental Retardaon, X-Linked, With Panhypopituitarism disease Bonnemann-Meinecke-Reich syndrome disease 70 growth hormone secreon phenotype Phenotype increased growth hormone level Phenotype decreased growth hormone level Phenotype insensivity to growth hormone Phenotype abnormal growth hormone level Phenotype Growth hormone excess Phenotype Growth hormone excess disease adrenocorcotropic hormone deficiency disease Pituitary Hormone Deficiency, Combined, 2 disease Acquired pituitary hormone deficiency disease Adrenocorcotropic hormone deficiency Phenotype Pituitary Hormone Deficiency, Combined, 6 disease Pituitary Hormone Deficiency, Combined disease Hypothalamic luteinizing hormone-releasing hormone deficiency Phenotype increased circulang growth hormone level Phenotype decreased circulang growth hormone level Phenotype Pituitary Adenoma, Growth Hormone-Secreng, 2 disease regulaon of growth hormone secreon phenotype Phenotype growth hormone secreng pituitary adenoma disease Pituitary growth hormone cell adenoma Phenotype hypotonia-cysnuria syndrome disease Pepde growth factors deficiency disease Hypothalamic gonadotropin-releasing hormone deficiency Phenotype Isolated thyroid-smulang hormone deficiency disease Isolated thyrotropin-releasing hormone deficiency disease Non-acquired pituitary hormone eficiency disease Growth mental deficiency syndrome of Myhre disease malignant growth hormone secreng of pituitary disease Short stature due to growth hormone qualitave anomaly disease abnormal(ly) disrupted regulaon of growth hormone secreon Phenotype Growth delay due to insulin-like growth factor type 1 deficiency disease Short stature due to paral GHR deficiency disease Non-acquired combined pituitary hormone deficiency disease Pituitary hormone deficiency secondary to storage disease disease Pituitary hormone deficiency secondary to a granulomatous disease disease Pituitary hormone deficiency from tumoral origin disease 71 Pituitary hormone deficiency from meningeal origin disease Lipodystrophy due to pepdic growth factors deficiency disease hormone producing pituitary cancer disease Growth delay Phenotype Mild intrauterine growth retardaon Phenotype Dwarfism, Low-Birth-Weight Type, With Unresponsiveness to Growth Hormone disease Mild postnatal growth retardaon Phenotype Severe intrauterine growth retardaon Phenotype Resistance to thyrotropin-releasing hormone syndrome disease Severe postnatal growth retardaon Phenotype Peripheral resistance to thyroid hormones disease Gonadotropin deficiency Phenotype Short stature-delayed due to thyroid hormone metabolism deficiency disease Disease associated with non-acquired combined pituitary hormone deficiency disease Non-acquired combined pituitary hormone deficiency with spine abnormalies disease Laron syndrome disease Combined pituitary hormone deficiencies, genec forms disease Growth Deficiency and Mental Retardaon with Facial Dysmorphism disease Protein Deficiency disease Intrauterine growth retardaon Phenotype Congenital isolated ACTH deficiency disease Short stature due to primary acid-labile subunit deficiency disease increased thyroid-smulang hormone level Phenotype decreased thyroid-smulang hormone level Phenotype abnormal thyroid-smulang hormone level Phenotype Prolacn deficiency Phenotype decreased transforming growth factor level Phenotype increased transforming growth factor level Phenotype Growth and developmental delay-hypotonia-vision impairment-lacc acidosis syndrome disease abnormal(ly) neotenous growth developmental growth Phenotype abnormal(ly) heterochronic growth developmental growth Phenotype abnormal(ly) peramorphic growth developmental growth Phenotype galactokinase deficiency disease decreased circulang insulin-like growth factor I level Phenotype abnormal circulang insulin-like growth factor I level Phenotype

72 increased circulang insulin-like growth factor I level Phenotype abnormal insulin-like growth factor I level Phenotype increased circulang thyroid-smulang hormone level Phenotype decreased circulang thyroid-smulang hormone level Phenotype abnormal transforming growth factor beta level Phenotype Cernunnos-XLF deficiency disease Fallot complex-intellectual disability-growth delay syndrome disease Leukocyte adhesion deficiency type II disease abnormal(ly) growth quality of occurrent pancreas growth Phenotype DNA ligase IV deficiency disease GABA aminotransferase deficiency disease Asymmetric growth Phenotype growth variant Phenotype Growth abnormality Phenotype growth phenotype Phenotype Laron syndrome with immunodeficiency disease C8 deficiency Phenotype Ghrhr gene thyroid hormone generaon phenotype Phenotype pepde hormone processing phenotype Phenotype hormone transport phenotype Phenotype steroid hormone secreon phenotype Phenotype corcosteroid hormone secreon phenotype Phenotype hormone metabolic process phenotype Phenotype hormone acvity phenotype Phenotype hormone metabolism variant Phenotype , Hormone-Dependent disease endocrine hormone secreon phenotype Phenotype Thyroid-smulang hormone excess Phenotype Thyroid hormone receptor defect Phenotype increased luteinizing hormone level Phenotype decreased luteinizing hormone level Phenotype abnormal thyroid hormone level Phenotype Abnormality of circulang hormone level Phenotype Thymic hormone decreased Phenotype regulaon of hormone levels phenotype Phenotype 73 Pituitary resistance to thyroid hormone Phenotype Elevated follicle smulang hormone Phenotype Generalized resistance to thyroid hormone disease parathyroid hormone secreon phenotype Phenotype juvenile hormone secreon phenotype Phenotype hormone secreon phenotype Phenotype pepde hormone secreon phenotype Phenotype regulaon of hormone secreon phenotype Phenotype thyroid hormone resistance syndrome disease response to pepde hormone phenotype Phenotype Adrenocorcotropic hormone excess Phenotype Elevated luteinizing hormone Phenotype hypersecreon of corcotropin-releasing hormone Phenotype Abnormality of urine hormone level Phenotype insensivity to parathyroid hormone Phenotype decreased pituitary hormone level Phenotype increased pituitary hormone level Phenotype abnormal pituitary hormone level Phenotype hormone biosynthec process phenotype Phenotype response to hormone phenotype Phenotype hypogonadotropic hypogonadism 24 without anosmia disease GH2 gene Leydig cell hypoplasia disease GHV gene Growth delay due to insulin-like growth factor I resistance disease GHRHR gene cell growth variant Phenotype filamentous growth phenotype Phenotype growth rate variant Phenotype larval growth slow Phenotype growth cone lamellipodium phenotype Phenotype growth inhibion response to chemical Phenotype food dependent growth variant Phenotype embryonic growth variant Phenotype developmental growth variant Phenotype larval growth variant Phenotype 74 Secondary Growth Hormone Deficiency (OMIM/ORPHA database Gene Search Summary)

Disease id Disease name Associated genes

ORPHA: 91349 NON-FUNCTIONING PITUITARY ADENOMA OMIM: 122560 CORTICOTROPIN-RELEASING HORMONE ORPHA: 1600 MONOSOMY 18Q ORPHA: AUTOSOMAL DOMINANT HYPERINSULINISM 276575 DUE TO SUR1 DEFICIENCY ABCC8 (6833) ORPHA: 2965 PROLACTINOMA AIP (9049), MEN1 (4221) ORPHA: AUTOSOMAL DOMINANT HYPERINSULINISM 276580 DUE TO KIR6.2 DEFICIENCY KCNJ11 (3767) ORPHA: 276556 HYPERINSULINISM DUE TO UCP2 DEFICIENCY UCP2 (7351) ORPHA: 91347 TSH-SECRETING PITUITARY ADENOMA

Pituitary Dwarfism Associated Diseases (OMIM/ORPHA database Gene Search Summary)

Disease id Disease name Associated genes

GLI2 (2736), HESX1 (8820), ORPHA: COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC OTX2 (5015), POU1F1 (5449), 95494 FORMS PROP1 (5626), LHX4 (89884) OMIM: 221750 DEAFNESS, SENSORINEURAL, WITH PITUITARY DWARFISM LHX3 (8022) OMIM: 173100 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II GH1 (2688) ORPHA: 90695 PANHYPOPITUITARISM SOX3 (6658), PROP1 (5626) OMIM: 312000 PANHYPOPITUITARISM, X-LINKED SOX3 (6658) OMIM: 262400 PITUITARY DWARFISM I GH1 (2688) OMIM: 262650 PITUITARY DWARFISM IV GH1 (2688)

75 OMIM: 262710 PITUITARY DWARFISM WITH LARGE SELLA TURCICA OMIM: 262700 PITUITARY DWARFISM WITH SMALL SELLA TURCICA LHX4 (89884)

Growth Hormone Excess (OMIM/ORPHA database Gene Search Summary)

Disease name Associated genes

OMIM: 160980 CARNEY COMPLEX, TYPE 1 PRKAR1A (5573) ORPHA: 300373 FAMILIAL INFANTILE GIGANTISM OMIM: 131100 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I MEN1 (4221) ORPHA: 769 RABSON-MENDENHALL SYNDROME INSR (3643) ORPHA: ACANTHOSIS NIGRICANS-INSULIN RESISTANCE-MUSCLE 90301 CRAMPS-ACRAL ENLARGEMENT SYNDROME FOS (2353), BSCL2 (26580), ORPHA: CAV1 (857), AGPAT2 (10555), 528 BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY PPARG (5468) ORPHA: 300385 PITUITARY CARCINOMA ORPHA: 99725 PITUITARY GIGANTISM OMIM: 174800 MCCUNE-ALBRIGHT SYNDROME GNAS (2778) OMIM: 102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING AIP (9049), GNAS (2778) OMIM: 300942 CHROMOSOME XQ26.3 DUPLICATION SYNDROME OMIM: 300943 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 2 GPR101 (83550) ORPHA: HPGD (3248), SLCO2A1 2796 PACHYDERMOPERIOSTOSIS (6578) ORPHA: 2965 PROLACTINOMA AIP (9049), MEN1 (4221) ORPHA: 251937 GANGLIOCYTOMA OMIM: 610755 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV CDKN1B (1027)

76 ORPHA: 91347 TSH-SECRETING PITUITARY ADENOMA ORPHA: 1359 CARNEY COMPLEX PRKAR1A (5573)

Precocious Puberty Associated Condions (OMIM/ORPHA database Gene Search Summary)

Cytogenetic Name Also Titled/ or Included Local

LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR 2p16.3 PRECOCIOUS PUBERTY, CENTRAL, 1; CPPB1 19p13.3 LEYDIG CELL ADENOMA, SOMATIC, WITH MALE-LIMITED PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE-LIMITED INCLUDED 2p16.3 POLYOSTOTIC FIBROUS DYSPLASIA, INCLUDED; PFD, INCLUDED; POFD, MCCUNE-ALBRIGHT SYNDROME; MAS INCLUDED 20q13.32 PRECOCIOUS PUBERTY, CENTRAL, 2; CPPB2 15q11.2 SPASTIC PARAPLEGIA WITH PRECOCIOUS PUBERTY HYPOTONIA, SEIZURES, AND PRECOCIOUS PUBERTY MAKORIN 3; MKRN3 ADRENAL HYPOPLASIA, CONGENITAL; AHC Xp21.2 KISS1 RECEPTOR; KISS1R 19p13.3 PALLISTER-HALL SYNDROME; PHS 7p14.1 NEUROFIBROMATOSIS, TYPE I; NF1 17q11.2 GYNECOMASTIA, FAMILIAL, DUE TO INCREASED AROMATASE ACTIVITY, INCLUDED;GYNECOMASTIA, HEREDITARY, AROMATASE EXCESS SYNDROME; AEXS INCLUDED 15q21.2 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2 Xp22.13 HYPERANDROGENISM, NONCLASSIC TYPE, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21- DUE TO 21-HYDROXYLASE DEFICIENCY, HYDROXYLASE DEFICIENCY INCLUDED 6p21.33 77 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1 Xp21.2 WILLIAMS-BEUREN SYNDROME; WBS 7q11.23 KISS1 METASTASIS SUPPRESSOR; KISS1 1q32.1 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY 8q24.3 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-STIMULATING ACTIVITY POLYPEPTIDE 1, INCLUDED; GNAS1, INCLUDED;Gs, ALPHA SUBUNIT, INCLUDED;STIMULATORY G PROTEIN, INCLUDED;ADENYLATE CYCLASE STIMULATORY PROTEIN, ALPHA SUBUNIT, INCLUDED;SECRETOGRANIN VI, INCLUDED;NEUROENDOCRINE SECRETORY PROTEIN 55, INCLUDED; NESP55, INCLUDED;XL-ALPHA-S, INCLUDED; XLAS, INCLUDED;A/B TRANSCRIPT, INCLUDED;ALTERNATIVE GENE PRODUCT ENCODED BY THE XL EXON, INCLUDED; GNAS COMPLEX LOCUS; GNAS ALEX, INCLUDED 20q13.32 G PROTEIN-COUPLED RECEPTOR 1; GPR1 2q33.3 PRADER-WILLI SYNDROME CHROMOSOME REGION, INCLUDED; PWCR, INCLUDED;PRADER-WILLI-LIKE SYNDROME ASSOCIATED WITH CHROMOSOME 6, 15q11.2, PRADER-WILLI SYNDROME; PWS INCLUDED 15q11.2 1p13.2, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; 11p15.5, SFM 12p12.1 CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5 Xp22.13 SOLITARY MEDIAN MAXILLARY CENTRAL SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; INCISOR SYNDROME, INCLUDED;;SMMCI SMMCI SYNDROME, INCLUDED 7q36.3 CARPENTER SYNDROME 1; CRPT1 6p12.1-p11.2 MENTAL RETARDATION, X-LINKED 102; MRX102 Xp11.4 MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME; MCSKS 4q31.3 MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31 5q31.3 GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY; GCCD4 5p12 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; 7p14.3, IGHD1B 17q23.3 COHEN SYNDROME; COH1 8q22.2 78 BANNAYAN-RILEY-RUVALCABA SYNDROME; BRRS 10q23.31 OPTIC NERVE APLASIA, BILATERAL, OPTIC NERVE HYPOPLASIA, BILATERAL INCLUDED 11p13 GARDNER SYNDROME, INCLUDED; GS, INCLUDED;BRAIN TUMOR-POLYPOSIS SYNDROME 2, INCLUDED; BTPS2, INCLUDED;FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED, INCLUDED; AFAP, INCLUDED;ADENOMATOUS POLYPOSIS COLI, ATTENUATED, INCLUDED; AAPC, FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1 INCLUDED 5q22.2 PEUTZ-JEGHERS SYNDROME; PJS 19p13.3 PITUITARY HORMONE DEFICIENCY, COMBINED, 5, INCLUDED; CPHD5, INCLUDED;GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA INCLUDED 3p14.3 CHROMOSOME Xq26.3 DUPLICATION SYNDROME Xq26.3 COFFIN-SIRIS SYNDROME 1; CSS1 6q25.3 CHROMOSOME 16p13.3 DUPLICATION SYNDROME 16p13.3 STANKIEWICZ-ISIDOR SYNDROME; STISS 17q24.2 ALPHA-1B-ADRENERGIC RECEPTOR; ADRA1B 5q33.3 GROWTH HORMONE-RELEASING HORMONE RECEPTOR; GHRHR 7p14.3 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 1; CYP11B1 8q24.3 CORTISONE REDUCTASE DEFICIENCY 1; CORTRD1 1p36.22 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES 19p13.2 KABUKI SYNDROME 1; KABUK1 12q13.12 TUBEROUS SCLEROSIS 1; TSC1 9q34.13 WOLF-HIRSCHHORN SYNDROME; WHS 4p16.3 KARTAGENER SYNDROME, INCLUDED;DEXTROCARDIA, BRONCHIECTASIS, AND SINUSITIS, CILIARY DYSKINESIA, PRIMARY, 1; CILD1 INCLUDED;SIEWERT SYNDROME, INCLUDED 9p13.3 DONOHUE SYNDROME INSULIN RECEPTOR, DEFECT IN, INCLUDED 19p13.2 TSC2 ANGIOMYOLIPOMAS, RENAL, 12q15, TUBEROUS SCLEROSIS 2; TSC2 MODIFIER OF, INCLUDED 16p13.3 AICARDI SYNDROME; AIC Xp22 HEXOSE-6-PHOSPHATE DEHYDROGENASE; H6PD 1p36.22 MAB21, C. ELEGANS, HOMOLOG-LIKE 2; MAB21L2 4q31.3 79 V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG; HRAS 11p15.5 BRACHYOLMIA TYPE 1, HOBAEK TYPE; BCYM1A ANDROGEN RECEPTOR; AR Xq12 AROMATASE DEFICIENCY 15q21.2 CHROMOSOME 14 OPEN READING FRAME 4; C14ORF4 14q24.3 CZECH DYSPLASIA 12q13.11 GRAYING OF HAIR, PRECOCIOUS HYPERLEXIA OSTEODYSPLASTY, PRECOCIOUS, OF DANKS, MAYNE, AND KOZLOWSKI NOONAN SYNDROME 1; NS1 PTERYGIUM COLLI SYNDROME, INCLUDED 12q24.13 CYP19A1/CGNL1 FUSION GENE, INCLUDED;CYP19A1/TMOD3 FUSION GENE, CYTOCHROME P450, FAMILY 19, SUBFAMILY A, INCLUDED;CYP19A1/TRPM7 FUSION GENE, POLYPEPTIDE 1; CYP19A1 INCLUDED 15q21.2 POLYCYSTIC OVARIAN DISEASE DUE TO 17- 17-BETA HYDROXYSTEROID DEHYDROGENASE III KETOSTEROID REDUCTASE DEFICIENCY, DEFICIENCY INCLUDED 9q22.32 HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2 8p11.23 INS-IGF2 SPLICED READ-THROUGH TRANSCRIPTS, INCLUDED; INSIGF, INSULIN; INS INCLUDED 11p15.5 HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7 4q13.2 NEWBORN OVARY HOMEOBOX, MOUSE, HOMOLOG OF; NOBOX 7q35 PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH MICROPENIS, INCLUDED 2p23.1 CHONDROCALCIN, INCLUDED; VITREORETINOPATHY WITH PHALANGEAL COLLAGEN, TYPE II, ALPHA-1; COL2A1 EPIPHYSEAL DYSPLASIA, INCLUDED 12q13.11 BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND 10q23.2- METAPHYSEAL CHANGES; BCYM4 q23.3 COAGULATION FACTOR IX; F9 Xq27.1 HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23 19q13.33 HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA; HH24 11p14.1

80 HEMOPHILIA B(M), INCLUDED; HEMOPHILIA B; HEMB HEMOPHILIA B LEYDEN, INCLUDED Xq27.1 LEPTIN; LEP 7q32.1 FGFR1/BCR FUSION GENE, INCLUDED; FGFR1/FGFR1OP2 FUSION GENE, INCLUDED;FGFR1/ZNF198 FUSION GENE, INCLUDED;FGFR1/TACC1 FUSION GENE, FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1 INCLUDED 8p11.23 HDL CHOLESTEROL, AUGMENTED RESPONSE OF, TO HORMONE REPLACEMENT, INCLUDED;ATHEROSCLEROSIS, ESTROGEN RECEPTOR 1; ESR1 SUSCEPTIBILITY TO, INCLUDED 6q25.1-q25.2 NIPPED-B-LIKE; NIPBL 5p13.2 PITUITARY HORMONE DEFICIENCY, COMBINED, 2; CPHD2 5q35.3 LUTEINIZING HORMONE, BETA POLYPEPTIDE; LHB 19q13.33 FOLLICLE-STIMULATING HORMONE, BETA POLYPEPTIDE; FSHB 11p14.1 DESBUQUOIS DYSPLASIA, KIM VARIANT, DESBUQUOIS DYSPLASIA 1; DBQD1 INCLUDED 17q25.3 ODONTOMICRONYCHIAL DYSPLASIA CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR 7q31.2 HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1 Xp22.31 GONADOTROPIN-RELEASING HORMONE RECEPTOR; GNRHR 4q13.2 BRACHYOLMIA TYPE 2; BCYM2 HYPERLIPOPROTEINEMIA, TYPE IV HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2; PHOAR2 3q22.1-q22.2 ULNAR-MAMMARY SYNDROME; UMS 12q24.21 PREMATURE OVARIAN FAILURE 5; POF5 7q35 INSULIN-LIKE 3; INSL3 19p13.11 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS; SEDCJD 10q22.1 , MULTIPLE, OLLIER TYPE MACROSOMIA ADIPOSA CONGENITA ENHANCER OF ZESTE, DROSOPHILA, HOMOLOG 2; EZH2 7q36.1

81 CARBOHYDRATE SULFOTRANSFERASE 8; CHST8 19q13.11 PROTEIN PHOSPHATASE 4, REGULATORY SUBUNIT 3, ALPHA; PPP4R3A 14q32.12 PROTEIN PHOSPHATASE 4, REGULATORY SUBUNIT 3, BETA; PPP4R3B 2p16.1 MAU2 CHROMATID COHESION FACTOR, C. ELEGANS, HOMOLOG OF; MAU2 19p13.11 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA; IGHD1A 17q23.3 HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12 8p21.2 ACTIVIN BETA-B, INCLUDED;ACTIVIN B, INHIBIN, BETA B; INHBB INCLUDED 2q14.2 LIPOID CONGENITAL ADRENAL HYPERPLASIA; LCAH 8p11.23 GLYCOGEN STORAGE DISEASE Ia; GSD1A 17q21.31 CRANIOOSTEOARTHROPATHY, INCLUDED; COA, INCLUDED;FAMILIAL IDIOPATHIC OSTEOARTHROPATHY OF CHILDHOOD, INCLUDED;CURRARINO IDIOPATHIC HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, OSTEOARTHROPATHY, INCLUDED; CIO, AUTOSOMAL RECESSIVE, 1; PHOAR1 INCLUDED 4q34.1 TEMPLE SYNDROME 14q32 OLIVER-MCFARLANE SYNDROME; OMCS 19p13.2 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; NR5A1 9q33.3 HEPARAN SULFATE 6-O-SULFOTRANSFERASE 1; HS6ST1 2q14.3 INTERLEUKIN 17 RECEPTOR D; IL17RD 3p14.3 HYPERLIPOPROTEINEMIA, TYPE I 8p21.3 FACIAL DYSMORPHISM, SELECTIVE TOOTH AGENESIS, AND CHOROID CALCIFICATION HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1 Xq26.2-q26.3 BOUCHER-NEUHAUSER SYNDROME; BNHS 19p13.2 PERRAULT SYNDROME 1; PRLTS1 5q23.1 LEYDIG CELL HYPOPLASIA, TYPE II, INCLUDED;LEYDIG CELL HYPOPLASIA, PARTIAL, INCLUDED;LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA, TYPE I INCLUDED 2p16.3 LEPTIN DEFICIENCY OR DYSFUNCTION; LEPD 7q32.1

82 HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA; HH18 3p14.3 USHER SYNDROME, TYPE IB, INCLUDED; USH1B, INCLUDED;USHER SYNDROME, TYPE IA, FORMERLY, INCLUDED; USH1A, FORMERLY, INCLUDED;USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY, USHER SYNDROME, TYPE I; USH1 INCLUDED 11q13.5 LIPEDEMA FIBROBLAST GROWTH FACTOR 8; FGF8 10q24.32 DELTA, DROSOPHILA, HOMOLOG-LIKE 1; DLK1 14q32.2 PROKINETICIN RECEPTOR 2; PROKR2 20p12.3 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2 1q22 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3- BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY 1p12 1q23.3, 7q31.2, CYSTIC FIBROSIS; CF 19q13.2 CHROMOSOME Xp11.23-p11.22 DUPLICATION Xp11.23- SYNDROME p11.22 LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD7 10q22.3 HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA; HH3 20p12.3 CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT 8p23.3 ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME; ANES 7q32.1 HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA; HH9 9q34.3 HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA; HH16 7q21.11 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T 1p31.3 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE- ONSET, 1; ADMIO1 17q21.2 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60; MRT60 1p13.3 SEBACEOUS GLAND HYPERPLASIA, FAMILIAL PRESENILE PILI TORTI, EARLY-ONSET 83 PYGMY GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-4; GABRA4 4p12 GAMMA-AMINOBUTYRIC ACID RECEPTOR, DELTA; GABRD 1p36.33 NEUROMEDIN U; NMU STEROID 5-ALPHA-REDUCTASE 2; SRD5A2 2p23.1 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 10; IGSF10 3q25.1 APOA1 DEFICIENCY, INCLUDED;APOA1/ APOLIPOPROTEIN A-I; APOA1 APOC3 FUSION GENE, INCLUDED 11q23.3 BPES, TYPE I, INCLUDED;BPES, TYPE II, INCLUDED;BPES WITH OVARIAN FAILURE, INCLUDED;BPES WITHOUT OVARIAN FAILURE, INCLUDED;BPES WITH DUANE BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS RETRACTION SYNDROME, INCLUDED;BPES, INVERSUS; BPES TYPE I, AUTOSOMAL RECESSIVE, INCLUDED 3q22.3 METATROPIC DYSPLASIA 12q24.11 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1; HNFJ1 16p12.3 OMPHALOCELE, AUTOSOMAL 1p31.3 7q21.3, OSTEOGENESIS IMPERFECTA, TYPE II; OI2 17q21.33 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS 7p14.1 SNEDDON SYNDROME 22q11.1 SPHEROCYTOSIS, TYPE 1; SPH1 8p11.21 EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3 MYOPATHY, INCLUDED 20q13.33 TRICHODENTOOSSEOUS SYNDROME; TDO 17q21.33 ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE; AMDH 20q11.22 TANGIER DISEASE; TGD 9q31.1 EHLERS-DANLOS SYNDROME, TYPE VI; EDS6 1p36.22 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2; SEMDJL2 16p11.2 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA, INCLUDED;CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B2, WITH EARLY- CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; CMT4B2 ONSET GLAUCOMA, INCLUDED 11p15.4 WITH MILD CHONDRODYSPLASIA; OSCDP 12q13.11 84 PHELAN-MCDERMID SYNDROME; PHMDS 22q13.33 EPIPHYSEAL DYSPLASIA, FAIRBANK TYPE, INCLUDED;EPIPHYSEAL DYSPLASIA, RIBBING EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1 TYPE, INCLUDED 19p13.11 GERODERMA OSTEODYSPLASTICUM; GO 1q24.2 FRANK-TER HAAR SYNDROME; FTHS 5q35.1 CORTISONE REDUCTASE DEFICIENCY 2; CORTRD2 1q32.2 SCHNECKENBECKEN DYSPLASIA 1p31.3 CORONARY ARTERY DISEASE, SEVERE, SUSCEPTIBILITY TO, INCLUDED;LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 5, INCLUDED; HYPERLIPOPROTEINEMIA, TYPE III LDLCQ5, INCLUDED 19q13.32 SPERMATOGENIC FAILURE 2; SPGF2 Chr.1 AUTISM, SUSCEPTIBILITY TO, 1, INCLUDED; AUTS1, INCLUDED;AUTISM SPECTRUM AUTISM DISORDER, INCLUDED; ASD, INCLUDED 7q22 IMMUNE DEFECT DUE TO ABSENCE OF THYMUS ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA; ASPED ARTERIES, ANOMALIES OF CALCIFIC AORTIC DISEASE WITH IMMUNOLOGIC ABNORMALITIES, FAMILIAL RETINITIS PIGMENTOSA, LATE-ADULT ONSET NATRIURETIC PEPTIDE RECEPTOR 2; NPR2 9p13.3 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF 11p14.1 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL-RELATED ONCOGENE, NEUROBLASTOMA-DERIVED; MYCN 2p24.3 NATRIURETIC PEPTIDE PRECURSOR C; NPPC 2q37.1 KERATINOCYTE GROWTH FACTOR RECEPTOR, INCLUDED; KGFR, INCLUDED;BEK, MOUSE, HOMOLOG OF, INCLUDED;FIBROBLAST GROWTH FACTOR FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2 RECEPTOR BEK, INCLUDED 10q26.13 NUCLEAR FACTOR I/B; NFIB 9p23-p22 MITOGEN-ACTIVATED PROTEIN KINASE 8; MAPK8 10q11.22 RING FINGER PROTEIN 1; RING1 6p21.32 SIAH E3 UBIQUITIN PROTEIN LIGASE FAMILY, MEMBER 1; SIAH1 16q12.1 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT C, INTEGRAL MEMBRANE PROTEIN, 15-KD; SDHC 1q23.3

85 FORKHEAD BOX E1; FOXE1 9q22.33 MITOGEN-ACTIVATED PROTEIN KINASE 9; MAPK9 5q35.3 ECOTROPIC VIRAL INTEGRATION SITE 5; EVI5 1p22.1 CYCLIN-DEPENDENT KINASE INHIBITOR 2C; CDKN2C 1p32.3 GLUTATHIONE PEROXIDASE 5; GPX5 6p22.1 SUPPRESSOR OF CYTOKINE SIGNALING 1; SOCS1 16p13.13 ZINC FINGER E BOX-BINDING HOMEOBOX 2; ZEB2 2q22.3 F-BOX ONLY PROTEIN 5; FBXO5 6q25.2 SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 3; SHANK3 22q13.33

Detailed List of Condions/Diseases Impacng Children’s Growth

13q Deleons hp://www.rarechromo.org/informaon/ Short Stature (various) Overview chromosome%2013/13q%20deleons%20vari ous%20FTNW.pdf 14q Deleons hp://www.rarechromo.org/informaon/ Low GH and THY Between 14q22 and chromosome%2014/14q%20deleons%20bet Hormones 14q32 ween%2014q22%20and%2014q32%20FTNP.p df 16p13.11 hp://www.malacards.org/card/ Short Stature Microdeleon 16p1311_microdeleon_syndrome? Syndrome search=short+stature 20p12.3 hp://www.malacards.org/card/ Short Stature Microdeleon 20p123_microdeleon_syndrome? Syndrome search=short+stature 8p Inverted hp://www.orpha.net/consor/cgi-bin/ Precocious Duplicaon/Deleon OC_Exp.php?lng=EN&Expert=96092 Puberty Syndrome Aarskog Syndrome hps://rarediseases.org/rare-diseases/ Short Stature aarskog-syndrome/ Aarskog–Sco hps://ghr.nlm.nih.gov/condion/aarskog- 1q21.1 Deleon Short Stature Syndrome sco-syndrome Syndrome

86 Abetalipoproteinemia hps://ghr.nlm.nih.gov/condion/ Failure to Thrive abetalipoproteinemia Ablepharon hps://rarediseases.info.nih.gov/diseases/3/ Growth Delay Macrostomia ablepharon-macrostomia-syndrome Syndrome Abnormal Facies, hps://www.ncbi.nlm.nih.gov/books/ Short Stature Mental Retardaon, NBK243/ Ectomorphic Habitus Abruzzo-Erickson hps://rarediseases.info.nih.gov/diseases/ Short Stature Syndrome 360/abruzzo-erickson-syndrome Absence of Septum hps://rarediseases.info.nih.gov/diseases/ Associated with Pellucidum 9253/absence-of-septum-pellucidum Septo-Opc Dysplasia Achalasia-Adrenal- hps://ghr.nlm.nih.gov/condion/triple-a- Developmental Alacrima Syndrome syndrome Delay Achalasia- hps://rarediseases.info.nih.gov/diseases/ Growth Delay Microcephaly 456/achalasia-microcephaly-syndrome Syndrome Achondroplasia hps://ghr.nlm.nih.gov/condion/ Dwarfism achondroplasia Acquired hps://www.ncbi.nlm.nih.gov/pubmed/ Short Stature Hypothyroidism 3344006 Acrocallosal hps://rarediseases.org/rare-diseases/ Short Stature Syndrome acrocallosal-syndrome-schinzel-type/ Acrocallosal hps://rarediseases.info.nih.gov/diseases/ Growth Delay Syndrome, Schinzel 5721/acrocallosal-syndrome-schinzel-type Type Acrocapitofemoral hps://rarediseases.info.nih.gov/diseases/ Delayed Skeletal Dysplasia 10605/acrocapitofemoral-dysplasia Maturaon Acrodysostosis hps://rarediseases.org/rare-diseases/ Growth Delays acrodysostosis/ Acrodysplasia, hps://www.ncbi.nlm.nih.gov/pubmed/ Short Stature Ossificaon 10213049 Abnormalies, Short Stature, Fibular Hypoplasia Acrofacial Dysostosis, hps://rarediseases.info.nih.gov/diseases/ AFD Catania Type; IUGR Catania Type 494/acrofacial-dysostosis-catania-type ACD; Opitz Mollica Sorge Syndrome Acrofacial Dysostosis, hps://www.omim.org/entry/616462 AFDCIN Short Stature Cincinna Type Acrofacial Dysostosis, hps://rarediseases.info.nih.gov/diseases/ Rodriguez Lethal IUGR Rodriguez Type 496/acrofacial-dysostosis-rodriguez-type Acrofacial Dysostosis Syndrome

87 Acro-Fronto-Facio- hps://www.omim.org/entry/201180 AFFN Dysostosis 1; Short Stature Nasal Dysostosis, AFFND1; Type 1 POLYSYNDACTYLY, POSTAXIAL, FRONTONASAL Dysostosis, and CLEFT LIP/PALATE Acro-Fronto-Facio- hps://www.omim.org/entry/239710 AFFN Dysostosis 2; Hypospadias Nasal Dysostosis, AFFND2; Type 2 Acrofrontofacianasal Dysostosis with Genitourinary Anomalies; Naguib- Richiere-Costa Syndrome; Hypertelorism, Hpospadias, and Polysyndactyly Syndrome Acromegaloid hps://rarediseases.info.nih.gov/diseases/ Tall Stature Features, Cus 500/acromegaloid-changes-cus-vercis- Vercis Gyrata, gyrata-and-corneal-leukoma Leukoma Acromegaly hp://www.mayoclinic.org/diseases- Exaggerated Bone condions/acromegaly/home/ovc-20177622 Growth and Abnormal Increase in Height Acromesomelic hps://rarediseases.info.nih.gov/diseases/ Hypergonadotropi Chondrodysplasia, 10077/chondrodysplasia-acromesomelic-with- c Hypogonadism Genital Anomalies genital-anomalies Acromesomelic hp://www.sciencedirect.com/science/ Abnormal Rates of Dwarfism, Ferraz arcle/pii/S0002929707607575 Linear Growth Type Acrometageria hp://www.rightdiagnosis.com/a/ Short Stature acrogeria_goron_type/intro.htm Acromicric Dysplasia hps://ghr.nlm.nih.gov/condion/acromicric- Short Stature dysplasia Acro-Osteolysis hps://rarediseases.info.nih.gov/diseases/ Bone Issues, 508/acroosteolysis-dominant-type Frequent Fractures, Short Stature Acrorenal Mandibular hps://rarediseases.info.nih.gov/diseases/ Acro-Renal-Uterine- Intrauterine Syndrome 480/acrorenal-mandibular-syndrome Mandibular Growth Syndrome;Split Hand Retardaon Split Foot Mandibular Hypoplasia

88 Adams-Oliver hps://www.omim.org/entry/616028 Short Stature Syndrome Adams-Oliver hps://www.omim.org/entry/614219? IUGR Syndrome 2 search=adams%20oliver%20syndrome%202& highlight=syndromic%202%20syndrome%20oli ver%20adam Adenosine hps://rarediseases.info.nih.gov/diseases/ ADA Deficiency; Failure to Thrive; Deaminase 5748/adenosine-deaminase-deficiency Severe Combined Reduced Red Cell Deficiency Immunodeficiency Adenosine due to Adenosine Deaminase Deaminase Acvity Deficiency; Severe Combined Immunodeficiency due to ADA Deficiency; SCID due to ADA Deficiency; Severe Combined Immunodeficiency, Autosomal Recesive, T Cell-Negave, B Cell- Negave, NK Cell- Negave, due to Adenosine Deaminase Deficiency; ADA-SCID; Adenosine Deaminase Deficient Severe Combined Immunodeficiency Adenylosuccinase hps://rarediseases.info.nih.gov/diseases/ Adenylosuccinate Growth Delay Deficiency 550/adenylosuccinase-deficiency Lyase Deficiency; ADSL Deficiency ADNP-Related hps://rarediseases.info.nih.gov/diseases/ Growth Mulple Congenital 12931/adnp-syndrome Disturbance, Anomalies- Recurrent Intellectual Disability- Infecons Ausm Spectrum Disorder ADRENAL hps://www.omim.org/entry/300473 AHC Precocious HYPOPLASIA, Puberty CONGENITAL Adrenal Hypoplasia, hps://academic.oup.com/jcem/arcle- Corsol Deficiency Gonadotrophin lookup/doi/10.1210/jcem.83.8.5027 Deficiency, Deafness Aicardi Goueres hps://www.omim.org/entry/610333 Short Stature Syndrome 4 Aicardi Syndrome hps://rarediseases.info.nih.gov/diseases/ Precocious 5764/aicardi-syndrome Puberty

89 Al Gazali Khidr Prem hps://www.ncbi.nlm.nih.gov/mesh/ MGAT2-CDG Growth Disorders Chandran Syndrome 67535616 Alagille Syndrome hps://rarediseases.info.nih.gov/diseases/ IUGR 804/alagille-syndrome Alaninuria, hps://rarediseases.info.nih.gov/diseases/ Severe Short Microcephaly, 5026/alaninuria-with-microcephaly-dwarfism- Stature Dwarfism, Diabetes enamel-hypoplasia-and-diabetes-mellitus Alazami Syndrome hps://www.omim.org/entry/615071 Dwarfism Albright Hereditary hps://rarediseases.info.nih.gov/diseases/ Short Stature Osteodystrophy 5770/albrights-hereditary-osteodystrophy Albright Hereditary hps://rarediseases.info.nih.gov/diseases/ Short Stature Osteodystrophy-Like 5770/albrights-hereditary-osteodystrophy Syndrome, PRMT7 Mutaons Al-Gazali Syndrome hps://www.omim.org/entry/609465 IUGR ALKURAYA Syndrome hps://rarediseases.info.nih.gov/diseases/ CDG2A; Carbohydrate- Tall Stature 9828/mgat2-cdg-cdg-iia Deficient Glycoprotein Syndrome Type 2; CDGS2; Congenital Disorder of Glycosylaon, Type IIa; CDG-IIa; Mental Retardaon, Growth Retardaon, Prominent Columella, and open Mouth; Carbohydrate- Deficient Glycoprotein Syndrome, Type II, Formerly; CDGS2, Formerly; CDG Syndrome Type IIa; N- Acetylglucosaminyltra nsferase 2 Deficiency; Congenital Disorder of Glycosylaon Type 2a; Carbohydrate Deficient Glycoprotein Syndrome Type IIa; MGAT2-CDG Alopecia, Neurologic hps://www.omim.org/entry/612079 ANES Delayed Puberty Defects, and Endocrinopathy Syndrome ALPHA-1B- hps://www.omim.org/entry/104220 ADRA1B Precocious ADRENERGIC Puberty RECEPTOR

90 Al-Raqad Syndrome hp://www.uniprot.org/diseases/DI-04480 Growth Delays Alstrom Syndrome hps://rarediseases.info.nih.gov/diseases/ Short Stature 5787/alstrom-syndrome Alves Syndrome hp://www.rightdiagnosis.com/a/ Short Stature alves_castelo_dos_santos_syndrome/ intro.htm Amblyopia, Mental hps://www.omim.org/entry/156190 Growth Deficiency and Growth Retardaon Andersen-Tawil hps://rarediseases.info.nih.gov/diseases/ Long QT Syndrome 7; Growth Syndrome 9453/andersen-tawil-syndrome LQT7; Potassium- Abnormality Sensive Periodic Paralysis, Ventricular Ectopy, and Dysmorphic Features; Andersen Cardio Dysrhythmic Periodic Paralysis; Periodic Paralysis, Potassium- Sensive Cardiodysrhythmic Type Androgen Receptor hps://www.ncbi.nlm.nih.gov/pubmed/ AR Precocious 12146732 Puberty Anemia, Congenital hps://rarediseases.info.nih.gov/diseases/ CDA I; Mild Postnatal Dyserythropoiec, 2000/congenital-dyserythropoiec-anemia- Dyserythropoiec Growth Type Ib type-1 Anemia, Congenital Retardaon Type 1; Anemia, Dyserythropoiec, Congenital Type 1; Type I Congenital Dyserythropoiec Anemia

Anemia, http://jamanetwork.com/journals/ Hepatosplenomegaly Growth Sideroblasc, jamapediatrics/article-abstract/510365 Retardaon Pyridoxine- Responsive, Autosomal Recesive Angel-Shaped hp://www.orpha.net/consor/cgi-bin/ Delayed Bone Age phalango-epiphyseal OC_Exp.php?lng=EN&Expert=63442 Dysplasia Ankyloblepharon hps://www.ncbi.nlm.nih.gov/pmc/arcles/ IUGR Filiforme Adnatum PMC2083170/ Ankyloblepharon, hps://ghr.nlm.nih.gov/condion/ Failure to Thrive Ectodermal Dysplasia, ankyloblepharon-ectodermal-defects-cle-lip- Cleing palate-syndrome

91 Anterior Chamber hp://journals.lww.com/clindysmorphol/ Short Stature Cleavage Disorder, abstract/1995/01000/ Short Stature, Mental two_unrelated_children_with_Developmental Retardaon _delay,.6.aspx Antley-Bixler hps://rarediseases.org/rare-diseases/antley- ABS; Craniosynostosis, Premature Closure Syndrome bixler-syndrome/ Choanal Atresia, of Fibrous Joints, Radial Humeral Cranial Sutures, Synostosis; Craniosynotosis Mulsynostoc Osteodysgenesis with Fractures; Trapezoidocephaly- Mulple Synostosis Syndrome Apert Syndrome hps://rarediseases.info.nih.gov/diseases/ Acrocephalo- Growth 5833/apert-syndrome Syndactyly Type 1; Abnormality ACS 1; Syndactylic Oxycephaly; Apert- Crouzon Disease Apert Syndrome hps://rarediseases.org/rare-diseases/apert- Short Stature syndrome/ Aphalangia Paral hps://www.omim.org/entry/600384 Short Stature with Syndactyly and Duplicaon of Metatarsal IV Apparent hps://www.omim.org/entry/218030 Short Stature Mineralocorcoid Excess AREDYLD Disease hps://rarediseases.info.nih.gov/diseases/ Acral Renal IUGR 8509/aredyld Ectodermal Dysplasia Lipoatrophic Diabetes; Acrorenal Field Defect, Ectodermal Dysplasia, and Lipoatrophic Diabetes; Aredyld Syndrome Armfield X-linked hps://www.ncbi.nlm.nih.gov/labs/arcles/ Short Stature Mental Retardaon 10398235/ Syndrome AROMATASE hps://rbej.biomedcentral.com/arcles/ Precocious DEFICIENCY 10.1186/1477-7827-9-93 Puberty, ISS AROMATASE EXCESS hps://www.ncbi.nlm.nih.gov/pmc/arcles/ AEXS Precocious SYNDROME PMC3897146/ Puberty Arterial Calcificaon hps://www.ncbi.nlm.nih.gov/books/ Short Stature of Infancy NBK253403/ Arteriosclerosis, hps://www.omim.org/entry/208060 Delayed Puberty, Severe Juvenile Short Stature 92 Arthrogryposis hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Short Stature PMC2698792/ Arthrogryposis hps://rarediseases.info.nih.gov/diseases/ Illum Syndrome; IUGR Mulplex Congenita 792/arthrogryposis-mulplex-congenita- Lethal Autosomal Whistling face whistling-face Recesive Arthrogryposis Mulplex Congenita with Whistling Face and Calcificaons of the Nervous system; Arthrogryposis Mulplex Congenita- whistling Face Syndrome Arthrogryposis, hps://www.omim.org/entry/615065 Short Stature Distal, Type 5d Arts Syndrome hps://rarediseases.info.nih.gov/diseases/ Growth Delay 8756/arts-syndrome Aspartylglycosaminur hps://rarediseases.info.nih.gov/diseases/ Aspartylglucosamidas Lack of Growth ia 5854/aspartylglycosaminuria e Deficiency; AGU; Spurt in Puberty AGA Deficiency; Glycosylasparaginase Deficiency Asphyxiang Thoracic hps://rarediseases.info.nih.gov/diseases/ Asphyxiang Thoracic Hypospadias, Dystrophy 4 3049/jeune-syndrome Dystrophy; Infanle Macrocephaly, Thoracic Dystrophy; Failure to Thrive Thoracic Pelvic Phalangeal Dystrophy; Jeune's Syndrome; Chondroectodermal Dysplasia-Like Syndrome; ATD Asthma, Short hps://www.ncbi.nlm.nih.gov/medgen/ Growth Stature, and Elevated 395313 Abnormality IGA Astley-Kendall hp://www.orpha.net/consor/cgi-bin/ Astley-Kendall Dwarfism Dysplasia OC_Exp.php?lng=EN&Expert=85175 Syndrome Asymmetric Short hps://www.ncbi.nlm.nih.gov/mesh/ Dwarfism, Bone Stature Syndrome 67566248 Abnormalies Ataxia, Mental hps://www.ncbi.nlm.nih.gov/pubmed/ Dwarfism Retardaon, Short 9588536 Stature, Yamagata Type Ataxia, Ocular hps://www.ncbi.nlm.nih.gov/pubmed/ Growth Deficiency Telangiectasia, 10051019 Chromosome Instability

93 Ataxia, hp://www.malacards.org/card/ Short Stature Photosensivity, ataxia_photosensivity_short_stature_syndro Short Stature me Atkin Syndrome hps://rarediseases.info.nih.gov/diseases/ Atkin-Flaitz Syndrome Tall Stature 3537/atkin-syndrome ATR-16 Syndrome hps://rarediseases.org/rare-diseases/atr-16- Short Stature syndrome/ AUTISM hp://www.ausm-pdd.net/testdump/ Precocious test19111.htm Puberty Autoimmune hps://omim.org/entry/615952? ADMIO1 Delayed Puberty Disease, Mulsystem, search=615952&highlight=615952 Infanle-Onset, 1 Autoimmune hps://www.omim.org/entry/615952 Short Stature Disease, Mulsystem, Infanle-Onset, 1 Autoimmune hps://ghr.nlm.nih.gov/condion/ Develops Other Polyendocrinopathy- autoimmune-polyendocrinopathy-candidiasis- Endocrine Issues Candidiasis- ectodermal-dystrophy Including GHD Ectodermal Dystrophy Autosomal Dominant hp://www.malacards.org/card/ Pre and Postnatal Cus Laxa 3 (ADCL3) cus_laxa_autosomal_dominant_3 Growth Retardaon Autosomal Dominant hp://www.orpha.net/consor/cgi-bin/ Short Stature, Hypophosphatemic OC_Exp.php?lng=EN&Expert=89937 Bone Fractures Rickets Autosomal Dominant hp://journals.lww.com/clindysmorphol/ Disproporonate Spondyloepiphyseal Abstract/2006/10000/ Short Stature Dysplasia, Sellick- A_form_of_autosomal_dominant_spondyloep Smithson Type iphyseal.2.aspx Autosomal Recesive hps://www.ncbi.nlm.nih.gov/medgen/ Short Stature, Complex Spasc 322007 Skeletal Paraplegia Type 9B Abnormalies Autosomal Recesive hps://www.ncbi.nlm.nih.gov/medgen/9225 Hepatosplenomeg Congenital Ichthyosis aly 4A Autosomal Recesive hps://www.omim.org/entry/251200 Short Stature Microcephaly, MFSD2A Gene Mutaons Autosomal Recesive hps://www.omim.org/entry/258315 Various Types of Omodysplasia Dwarfism Axenfeld-Rieger hps://rarediseases.info.nih.gov/diseases/ Growth Delay Syndrome 5701/axenfeld-rieger-syndrome

94 Axial hps://rarediseases.info.nih.gov/diseases/ Short Stature Spondylometaphysea 8720/axial-spondylometaphyseal-dysplasia l Dysplasia Ayme-Gripp hps://www.omim.org/entry/601088 Short Stature Syndrome Bainbridge-Ropers hps://www.asxl3.com/blank Lower than Syndrome Average Height Baller-Gerold hps://rarediseases.info.nih.gov/diseases/ BGS; Failure to Thrive, Syndrome 1602/baller-gerold-syndrome Craniosynostosis- Short Stature Radial Aplasia Syndrome; Craniosynostosis with Radial Defects Bangstad Syndrome hps://rarediseases.info.nih.gov/diseases/ SGA, Severe Short 812/bangstad-syndrome Stature, Hypothyroidism Bannayan-Riley- hps://ghr.nlm.nih.gov/condion/bannayan- Bannayan-Riley- Slowed Growth Ruvalcaba Syndrome riley-ruvalcaba-syndrome Ruvalcaba Syndrome During Childhood, Precocious Puberty Bannayan-Zonana hps://ghr.nlm.nih.gov/condion/bannayan- Myhre Syndrome, or Slowed Growth in Syndrome, Ruvalcaba riley-ruvalcaba-syndrome# Riley-Smith Syndrome Childhood to Develop Normal Height, Overgrowth as a Fetus, Macrosomia, Macrocephaly Baraitser-Winter hps://ghr.nlm.nih.gov/condion/baraitser- Short Stature Cerebrofrontofacial winter-syndrome Syndrome Baraitser-Winter hps://rarediseases.info.nih.gov/diseases/ Under Baraitser- Postnatal Growth Syndrome 1 5279/baraitser-winter-syndrome Winter Syndrome Retardaon Baraitser-Winter hps://www.omim.org/entry/614583 Short Stature Syndrome 2 Barber-Say Syndrome hps://rarediseases.info.nih.gov/diseases/ Hypertrichosis, Failure to Thrive 819/barber-say-syndrome Atrophic Skin, Ectropion, and Macrostomia

95 Barth Syndrome hps://www.barthsyndrome.org/about-barth- BTHS; 3- Growth Delays syndrome Methylglutaconic Aciduria Type II; MGA Type II; Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria; TAZ Defect Barer Disease hps://rarediseases.org/rare-diseases/ Salt-Losing Growth barers-syndrome/ Tubulopathy with Retardaon and Secondary Short Stature Hyperaldosteronism Barer Syndrome hps://rarediseases.info.nih.gov/diseases/ Subdivisions:Barer SGA 5893/barer-syndrome Syndrome Type 1 (Loop Disorder Type 1); Barer Syndrome Type 2 (Loop Disorder Type 2); Barer Syndrome Type 3 (Classic Barer Syndrome; DCT Disorder Type 2); Barer Syndrome Type 4A (Loop-DCT Disorder Type 1); Barer Syndrome Type 4B (Loop-DCT Disorder Type 2); Gitelman Syndrome (DCT Disorder Type 1) Barer Syndrome, hps://www.omim.org/entry/601678 HYPOKALEMIC Failure to Thrive Type 1 ALKALOSIS WITH Hypercalciuria 1, Antenatal; HYPERPROSTAGLANDI N E Syndrome 1 Barer Syndrome, hps://rarediseases.info.nih.gov/diseases/ Hypokalemic alkalosis Failure to Thrive, Type 1, Antenatal 830/barer-syndrome-antenatal-type-1 with Hypercalciuria Small for Antenatal 1; Gestaonal Age Hyperprostaglandin E Syndrome 1; Antenatal Barer Syndrome Type1 Barer Syndrome, hps://rarediseases.info.nih.gov/diseases/ Hypokalemic alkalosis Failure to Thrive, Type 2, Antenatal 9658/barer-syndrome-antenatal-type-2 with Hypercalciuria Small for Antenatal 2; Gestaonal Age Hyperprostaglandin E Syndrome 2

96 Baxova Syndrome hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Growth PMC3644626/ Retardaon Beals Auriculo-Osteo- hp://accessanesthesiology.mhmedical.com/ Short Stature Dysplasia content.aspx? bookid=852&seconid=49517270 Beckwith- hps://www.ncbi.nlm.nih.gov/books/ Wiedemann-Beckwith Slowed Growth Wiedemann NBK1394/ Syndrome Syndrome Bent Bone Dysplasia, hps://www.ncbi.nlm.nih.gov/medgen/9225 Abnormal Lims, FGFR2 Type Abnormal Skeletal System Berk-Tabatznik hps://www.ncbi.nlm.nih.gov/pubmed/ Congenital Opc Short Stature Syndrome 3128111 Atrophy and Brachytelephalangy Berlin Syndrome hp://medical- stunted Growth diconary.thefreediconary.com/ Berlin+syndrome Berry Aneurysm, hps://www.ncbi.nlm.nih.gov/pubmed/ Cerebral Aneurysm- Short Stature Cirrhosis, Pulmonary 3130869 Cirrhosis Syndrome Emphysema, and Cerebral Calcificaon Biemond Syndrome Il hps://www.omim.org/entry/210350 Short Stature, Preaxial Polydactyly Bile Acid Synthesis hps://www.ncbi.nlm.nih.gov/medgen/9225 Bird-Headed hypothyroidism, Defect, Congenital, 5 Dwarfism with intrauterne Progressive Ataxia, Growth Insulin-Resistant Retardaon, Diabetes, Goiter and Diabetes, Severe Primary Gonadal Short Stature, Insufficiency Small for Gestaonal Age Blepharofacioskeletal hp://www.orpha.net/consor/cgi-bin/ Short Stature Syndrome OC_Exp.php?lng=EN&Expert=2353 Blepharophimosis hps://www.omim.org/entry/210745 Growth Disorders Blepharophimosis hps://rarediseases.info.nih.gov/diseases/ Short Stature with Ptosis, 905/blepharophimosis-with-ptosis-syndactyly- Syndactyly, and Short and-short-stature Stature Blepharophimosis, hp://jmg.bmj.com/content/jmedgenet/ Inconsistant Coloboma, Deafness, 28/2/131.full.pdf Normal Stature Polydactyly

97 Blepharophimosis, hps://www.ncbi.nlm.nih.gov/medgen/2670 Short Stature Deafness, Mental Retardaon, Short Stature, camptodactyly BLEPHAROPHIMOSIS, hps://www.ncbi.nlm.nih.gov/pubmed/ BPES Precocious PTOSIS, and 17451085 Puberty EPICANTHUS INVERSUS Blepharophimosis, hps://www.ncbi.nlm.nih.gov/medgen/2670 Short Stature Ptosis, Syndactyly, Short Stature, Autosomal Recesive Blepharophimosis- hps://www.ncbi.nlm.nih.gov/pubmed/ Growth Ptosis-Intellectual 23200864 Retardaon Disability Syndrome, UBE3B Deficiency Blepharoptosis, cle hps://ghr.nlm.nih.gov/condion/ Failure to Thrive Lip-Palate, ankyloblepharon-ectodermal-defects-cle-lip- ectrodactyly, dental palate-syndrome Anomalies Bloom Syndrome hps://ghr.nlm.nih.gov/condion/bloom- BS; Bloom-Torre- Short Stature syndrome Machacek Syndrome; BLM; Growth Deficiency, Sun- Sensive, Telangiectac, Hypo and Hyperpigmented Skin, Predisposion to Malignancy and Chromosomal Instability; BLS; Congenital Telangiectac Erythema Bloom Syndrome hps://ghr.nlm.nih.gov/condion/bloom- Short Stature syndrome Bohring-Opitz hps://rarediseases.info.nih.gov/diseases/ Opitz Trigonocephaly- IUGR Syndrome 10140/bohring-opitz-syndrome Like Syndrome; Bohring Syndrome; BOS Syndrome; C-Like Syndrome Bone Dysplasia Lethal hps://www.ncbi.nlm.nih.gov/medgen/ Growth Holmgren Type 347872 Abnormality, Abnormality of the Skeletal system

98 Bone Dysplasia, hps://www.ncbi.nlm.nih.gov/medgen/ Abnormality of Lethal, Holmgren 347872 the Skeletal Type system, Growth Abnormality Bone Dysplasia, hps://www.ncbi.nlm.nih.gov/books/ Short Stature Osteoporosis, NBK45506/ Bowing, Fractures Bone Dysplasia, hps://rarediseases.info.nih.gov/diseases/ Hereditary Bone Delayed Skeletal Rosenberg-Lohr Type 4740/ulna-metaphyseal-dysplasia-syndrome Dysplasia with Maturaon Characterisc Bowing and Thickening of the Distal Ulna; Metaphyseal Chondroplasia Rosenberg Type; Rosenberg Lohr Syndrome Bone Fragility, hp://www.familydiagnosis.com/diseases/ osteopenia Contractures, Arterial bone-fragility-with-contractures-arterial- Rupture, Deafness rupture-and-deafness/symptoms.htm Boomerang Dysplasia hps://ghr.nlm.nih.gov/condion/ Dwarfism with Short, Underdeveloped boomerang-dysplasia#stascs Bowed, Rigid Limbs or Missing Bones; and Characterisc Causing Short Facies; Boomerang- Arms and Legs, Like Skeletal Dysplasia Bowing of Upper Leg Bones Borjeson-Forssman- hps://rarediseases.org/rare-diseases/ BFLS; BORJ;Borjeson Mult Growth Lehmann Syndrome borjeson-forssman-lehman-syndrome/ Syndrome Deficiencies Borrone hps://www.omim.org/entry/249420 TER HAAR Syndrome; Short Stature Dermatocardioskelet BOorrone al Syndrome Dermatocardioskeletal Syndrome; Melnick- Needles Syndrome, Autosomal Recesive, Formerly Borrone Di Rocco hp://www.checkorphan.org/diseases/ Short Stature Crovato Syndrome borrone-di-rocco-crovato-syndrome

99 Boucher-Neuhauser hps://ghr.nlm.nih.gov/condion/boucher- Ataxia-Hypogonadism- Short Stature, Syndrome neuhauser-syndrome Chorodial Dystrophy Delayed Puberty, Syndrome; BNHS; Growth Delay BNS; Choriorenal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism; Spinocerebellar Ataxia, Hypogonadotropic Hypogonadism, and Choriorenal Dystrophy Boudhina Yedes hp://www.rightdiagnosis.com/b/ Short Stature Khiari Syndrome boudhina_yedes_khiari_syndrome/ symptoms.htm Bowed Long Bones, hps://www.omim.org/entry/603457 Delayed Puberty Dysmorphic Facies, Cysc Hygroma Bowed Tibiae, Radial hp://wrongdiagnosis.com/cosymptoms/ Short Stature Ray Defects, bowed-legs/osteopenia/short-stature.htm Osteopenia Bowen-Conradi hps://rarediseases.info.nih.gov/diseases/ Bowen Huerite Slow Growth, Syndrome 5950/bowen-conradi-syndrome Syndrome (formerly); Failure to Thrive Bowen-Conradi Huerite Syndrome; BWCNS Brachmann-De Lange hps://rarediseases.org/rare-diseases/ BDLS; Cornelia De Short Stature, Pre Syndrome (BdLS) cornelia-de-lange-syndrome/ Lange Syndrome; and Postnatal CdLS; De Lange Growth Syndrome Retardaon Brachydactyly hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Brachydactyly Short Stature PMC2441618/ Brachydactyly and hps://omim.org/entry/112410 Brachydactyly and Short Stature Hypertension Hypertension Syndrome Syndrome Brachydactyly Type E hps://www.omim.org/entry/113300 BDE1 Short Stature Brachydactyly, Type hps://www.omim.org/entry/112500? Farabee- Short Stature A1 search=Brachydactyly%2C%20%20Type%20A1 Type Brachydactyly &highlight=brachydactyly%20brachydactylic% 20a1%20brachydactylous%20type%20brachyd actylia

100 Brachydactyly, Type hps://www.omim.org/entry/113100? Brachydactyly, Haws Short Stature C search=Brachydactyly%2C%20%20Type%20C& Type highlight=c%20brachydactyly%20brachydactyli c%20brachydactylous%20type%20brachydacty lia Brachydactyly, hps://www.omim.org/entry/610023 Short Stature Coloboma, Anterior Segment Dysgenesis Brachydactyly, Distal hp://www.orpha.net/consor/cgi-bin/ Tall Stature Symphalangism, Disease_Search.php? Talipes lng=EN&data_id=2831&Disease_Disease_Sear ch_diseaseType=ORPHA&Disease_Disease_Se arch_diseaseGroup=3168&Disease(s)/ group%20of%20diseases=Brachydactyly- symphalangism- syndrome&tle=Brachydactyly- symphalangism- syndrome&search=Disease_Search_Simple Brachydactyly, hps://rarediseases.info.nih.gov/diseases/ Brachydactyly Short Stature Mononen Type 4886/brachydactyly-mononen-type Brachydactyly, Short hps://www.ncbi.nlm.nih.gov/pubmed/ Brachydactyly Short Stature Stature, facial 14755467 Anomalies Brachydactyly, hps://rarediseases.org/rare-diseases/filippi- Brachydactyly Growth Delays Syndactyly, Short syndrome/ Stature, Microcephaly, Mental Retardaon Brachydactyly, Type hps://www.omim.org/entry/112500? Brachydactyly Short Stature A1 search=Brachydactyly%2C%20Type%20A1&hig hlight=brachydactyly%20brachydactylic%20a1 %20brachydactylous%20type%20brachydactyl ia Brachydactyly, Type hps://www.omim.org/entry/112800? Brachydactyly Short Stature A4 search=Brachydactyly%2C%20Type%20A4&hig hlight=brachydactyly%20brachydactylic%20a4 %20brachydactylous%20type%20brachydactyl ia Brachydactyly, Type E hps://www.omim.org/entry/113300 Brachydactyly moderately Short Stature Brachydactyly, Type hps://www.omim.org/entry/613382? Brachydactyly Short Stature E2 search=Brachydactyly%2C%20Type%20E2&hig hlight=brachydactyly%20brachydactylic%20br achydactylous%20type%20brachydactylia%20 e2

101 Brachydactyly-Distal hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Brachydactyly Tall Stature Symphalangism PMC1013678/ Syndrome Brachymesomelia hp://onlinelibrary.wiley.com/doi/10.1002/ Impaired Growth and Peters' Anomaly uog.1910/pdf Brachymetapody, hps://www.omim.org/entry/211370 Short Stature Anodona, Hypotrichosis Brachymetapody- hps://omim.org/entry/211370? Anodona- Short Stature Anodona- search=211370&highlight=211370 Hypotrichosis Hypotrichosis- Syndrome; Albinoidism Oculoosteocutaneous Syndrome Brachymorphism- hps://www.omim.org/entry/113477 Pre and Postnatal Onychodysplasia- Short Stature Dysphalangism Syndrome Brachymorphism- hps://www.omim.org/entry/113477 BOD Syndrome Short Stature Onychodysplasia- Dysphalangism Syndrome Brachyolmia 4 with hps://www.omim.org/entry/612847 Spondyloepimetaphys Short trunk Mild Epiphyseal and eal Dysplasia, Stature Metaphyseal Changes Pakistani Type; SEMD, Pakistani Type; Spondylodysplasia and Premature Pubarche Brachyolmia Type 2 hps://www.omim.org/entry/613678 Brachyolmia, Short Stature Maroteaux Type Brachyolmia Type 3 hps://www.omim.org/entry/113500 Brachyolmia, Short Stature Autosomal Dominant; Brachyrachia Brachyolmia, hps://www.omim.org/entry/601216 Short Stature amelogenesis imperfecta Brachyolmia, Hobaek hps://www.omim.org/entry/271530 Brachyolmia, Hobaek Short Stature, Type Type Precocious Puberty Brachyolmia, hp://www.orpha.net/consor/cgi-bin/ Brachyolmia, Short Stature Maroteaux Type OC_Exp.php?Expert=93302 Maroteaux Type Brachyolmia, Toledo hps://www.omim.org/entry/271630 Brachyolmia, Toledo Short Stature Type Type Brachyolmia, Type 4 hps://www.omim.org/entry/612847 Brachyolmia, Type 4 Short Trunk Stature

102 Brachyphalangy, hps://www.ncbi.nlm.nih.gov/pubmed/ Short Stature Tibial Aplasia, 1240973 Polydactyly Brachytelephalangic hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Brachytelephalangic Moderate Growth Chondrodysplasia PMC4898183/ Chondrodysplasia Disturbance Punctata Punctata Brain Malformaon- hp://www.orpha.net/consor/cgi-bin/ Goossens-Devriendt IUGR Congenital Heart OC_Exp.php?lng=en&Expert=75389 Syndrome Disease-Postaxial Polydactyly Syndrome Branchial Arch hps://www.ncbi.nlm.nih.gov/pubmed/ Mild Short Stature Syndrome X-linked n/ 4039890 a Asymmetric Growth Branchial Arch hps://www.omim.org/entry/301950 Mandibulofacial Short Stature Syndrome, X-Linked Dysostosis, Toriello Type Branchiogenic- hps://www.ncbi.nlm.nih.gov/pubmed/ Somewhat Short Deafness Syndrome 12833414 Stature Branchiooculofacial hps://rarediseases.org/rare-diseases/ BOFS; Abnormally Slow Syndrome branchio-oculo-facial-syndrome/ Hemangiomatous Growth Aer Branchial Cles-Lip Birth; IUGR Pseudocle Syndrome; Imperforate Nasolacrimal Duct, and Premature Aging Syndrome; Lip Pseudocle- Hemangiomatous Branchial Cyst Syndrome Branchiooc hps://www.omim.org/entry/113650 Branchiootorenal Short Stature Syndrome 1 Dysplasia; Melnick- Fraser Syndrome Branchio-Oto-Cardio- hp://onlinelibrary.wiley.com/doi/10.1002/ Short Stature Skeletal Syndrome ajmg.10723/abstract Branchio-Oto-Renal hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Short Stature Syndrome PMC3605882/ Branchio-Skeleto- hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Short Stature Genital Syndrome PMC2600777/ BRESEK Syndrome hps://www.omim.org/entry/308205 BRESEK Syndrome Short Stature Brile Bone Disorder, hp://www.nature.com/gim/journal/v11/n6/ Brile Bone Disorder, Short Stature Nishimura Type full/gim200954a.html Nishimura Type

103 Brile Cornea hps://rarediseases.info.nih.gov/diseases/ EDS VIB (formerly); Disproporonate Syndrome 1 1019/brile-cornea-syndrome Ehlers-Danlos Tall Stature Syndrome Type 6B (formerly); Fragilitas Oculi with Joint Hyperextensibility; Corneal Fragility, Keratoglobus, blue Sclerae, Joint Hyperextensibility; Dysgenesis Mesodermalis Corneae Et Sclerae Brooks Wisniewski hps://rarediseases.info.nih.gov/diseases/ Congenital and Severe Postnatal Brown Syndrome 5610/brooks-wisniewski-brown-syndrome Genec Diseases; Growth Nervous System Retardaon Diseases Bruck Syndrome 1 hps://www.omim.org/entry/259450 Bruck Syndrome 1 Postnatal Short Stature Bruck Syndrome 2 hps://www.omim.org/entry/259450 Kuskokwin Disease; Short Stature Arthrogryposis-Like Disorder Bullous Dystrophy, hps://rarediseases.info.nih.gov/diseases/ Epidermolysis bullosa Severe Short Hereditary Macular 1038/bullous-dystrophy-hereditary-macular- macular Type; EBM Stature Type type Burn-Mckeown hps://ghr.nlm.nih.gov/condion/burn- Bilateral Choanal Mild Short Stature Syndrome mckeown-syndrome Atresia, Cardiac Defects, Deafness, and Dysmorphic Appearance; BMKS; Choanal Atresia- Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome; Oculo-Oto- Facial Dysplasia; Oculootofacial Dysplasia; OOFD Burton Skeletal hp://www.nature.com/gim/journal/v12/n6/ Burton Skeletal Short Stature or Dysplasia full/gim201054a.html Dysplasia Dwarfism Buschke-Ollendorff hp://jamanetwork.com/journals/ Buschke-Ollendorff Short Stature with Syndrome jamadermatology/fullarcle/420913 Syndrome or Without Precocious Puberty

104 C Syndrome hps://rarediseases.org/rare-diseases/c- Opitz Trigonocephaly Short Stature syndrome/ Syndrome; Trigonocephaly "C" Syndrome; Trigonocephaly Syndrome Café-Au-Lait Macules hps://www.ncbi.nlm.nih.gov/gtr/condions/ Short Stature with Pulmonary C0553586/ Stenosis Calvarial Hyperostosis hp://compbio.charite.de/hpoweb/ Excessive Growth showterm?id=HP:0004490 (over Growth) specific to Bone

CAMFAK Syndrome http://www.academia.edu/13988236/ Failure to Thrive CAMFAK_syndrome_A_demyelinating_in herited_disease_similar_to_Cockayne_sy ndrome CAMOS Syndrome hp://www.orpha.net/consor/cgi-bin/ Short Stature OC_Exp.php?lng=en&Expert=83472 Campomelia, hp://www.orpha.net/consor/cgi-bin/ Limb Defects Cumming Type (Short Disease_Search.php? (short) gut, Polycysc Kidney lng=EN&data_id=1542&Disease_Disease_Sear & Liver, Polysplenia) ch_diseaseGroup=Campomelia&Disease_Dise ase_Search_diseaseType=Pat&Disease(s)/ group%20of%20diseases=Campomelia-- Cumming-type&tle=Campomelia--Cumming- type&search=Disease_Search_Simple Campomelic hp://www.orpha.net/consor/cgi-bin/ Dwarfism Dysplasia Disease_Search.php? lng=EN&data_id=933&Disease_Disease_Searc h_diseaseGroup=Campomelic- dysplasia&Disease_Disease_Search_diseaseTy pe=Pat&Disease(s)/ group%20of%20diseases=Campomelic- dysplasia&tle=Campomelic- dysplasia&search=Disease_Search_Simple Camptodactyly hps://rarediseases.info.nih.gov/diseases/ Delayed Skeletal Syndrome 1067/camptodactyly-syndrome-guadalajara- Maturaon, IUGR Guadalajara Type 1 type-1 Camptodactyly hps://rarediseases.info.nih.gov/diseases/ IUGR Syndrome 1068/camptodactyly-syndrome-guadalajara- Guadalajara Type 2 type-2 Camptodactyly with hps://rarediseases.info.nih.gov/diseases/ Tel Hashomer Skeletal Dysplasia Muscular Hypoplasia, 5128/tel-hashomer-camptodactyly-syndrome Camptodactyly Skeletal Dysplasia, Syndrome and Abnormal Palmar Creases

105 Camptodactyly, Joint hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Camptodactyly Short Stature, Contractures, Facial, PMC1469047/pdf/jmedgene00361-0069.pdf Skeletal Dysplasia Skeletal Defects Camptodactyly, Tall hps://rarediseases.info.nih.gov/diseases/ CATSHL Syndrome Tall Stature Stature, Hearing Loss 10012/camptodactyly-tall-stature-and- hearing-loss-syndrome Camptodactyly, hp://www.malacards.org/card/ Camptodactyly- Skeletal Dysplasia Tissue Hyperplasia, camptodactyly_with_fibrous_ssue_hyperplas Fibrous Tissue Hyperpl Skeletal Dysplasia ia_and_skeletal_dysplasia? asia- search=Camptodactyly%2C+ssue+hyperplasi Skeletal Dysplasia Syn a%2C+skeletal+dysplasia drome Camptodactyly- hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Short Stature Ichthyosis Syndrome PMC1049014/pdf/jmedgene00106-0047.pdf Camura-Engelmann hps://ghr.nlm.nih.gov/condion/camura- Disprop Limbs to Disease engelmann-disease body, Tall Stature Camura-Engelmann hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Excessive Limb Disease, Type 2 PMC3179308/ Growth-Tall! Cancer hps://www.uptodate.com/contents/causes- Short Stature of-short-stature/abstract/28,29 Cantalamessa Baldini hps://www.ncbi.nlm.nih.gov/mesh/ Short Stature Ambrosi Syndrome 67537981 Cantu Syndrome hp://www.checkorphan.org/diseases/cantu- Short Stature syndrome Cantu-Sanchez- hp://www.malacards.org/card/ Short Stature Corona Hernandez cantu_sanchez_corona_hernandez_syndrome Syndrome ?search=Cantu-Sanchez- Corona+Hernandez+syndrome Capillary hp://www.orpha.net/consor/cgi-bin/ CLAPO Syndrome Tall- Overgrowth Malformaon of the OC_Exp.php?lng=en&Expert=168984 Syndrome Lower Lip, Lymphac Malformaon of Face and Neck, Asymmetry of Face and Limbs, and Paral/ Generalized Overgrowth Capillary hps://ghr.nlm.nih.gov/condion/ Microsephally Short Stature Malformaon microcephaly-capillary-malformaon- Capillary Syndrome syndrome Malformaon Syndrome CAPOS Syndrome hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Short Stature PMC5367920/ Carbohydrate hps://www.ncbi.nlm.nih.gov/gene/64377 CHST8 Precocious Sulfotransferase 8 Puberty

106 Carbohydrate- hp://pmj.bmj.com/content/76/893/145 Slow Deficient Development, Glycoprotein Short Stature Syndromes Carcinoid Syndrome hp://www.malacards.org/card/ Growth carcinoid_syndrome? "size" (Probably search=Carcinoid+syndrome list in both) Cardiac Disease hp://pediatrics.aappublicaons.org/content/ Growth Failure 131/1/e236 Cardiocranial hps://rarediseases.info.nih.gov/diseases/ Pfeiffer Cardiocranial Growth Deleon Syndrome 8586/cardiocranial-syndrome Syndrome; Craniostenosis, Sagial, with Congenital Heart Disease, Mental Deficiency, and Mandibular Ankylosis; Pfeiffer-Type Cardiocranial Syndrome; Pfeiffer Singer Zschiesche Syndrome Cardiofacial hp://www.checkorphan.org/diseases/ Cardiofacial Syndrome Cardiofacial Syn is Syndrome, Short cardiofacial-syndrome-short-limbs part of Other Limbs Syndromes such as 22q11.2 and Constuonal Growth Deleon Cardio-Facio- hps://ghr.nlm.nih.gov/condion/ Short Stature Cutaneous Syndrome cardiofaciocutaneous-syndrome Cardiofaciocutaneous hps://omim.org/entry/115150? Growth Failure Syndrome 1; CFC1 search=Cardiofaciocutaneous%20syndrome&h ighlight=cardiofaciocutaneous%20syndrome% 20syndromic Cardiofaciocutaneous hps://omim.org/entry/615280? Short Stature Syndrome 4 search=Cardiofaciocutaneous%20syndrome%2 04%20and%20stature&highlight=cardiofacioc utaneous%20syndrome%204%20syndromic%2 0stature Cardiomelic hp://www.checkorphan.org/diseases/ Retarded Fetal Syndrome, Straon- cardiomelic-syndrome-straon-koehler-type Growth Koehler Type Cardiomyopathy hps://view.officeapps.live.com/op/ Short Stature view.aspx?src=hps://kgmu.org/download/ virtualclass/Pediatrics/ shortstature_UG_21_08_12.ppt

107 Cardiomyopathy, hps://www.ncbi.nlm.nih.gov/books/ Short Stature Familial Hypertrophic NBK1768/ Cardio-Skeletal hps://www.ncbi.nlm.nih.gov/pubmed/ Short Stature Syndrome 134294 Cardioskeletal hps://omim.org/entry/212135? Skeletal Dysplasia Syndrome, Kuwai search=Cardioskeletal%20syndrome%2C%20K Type uwai%20Type&highlight=syndromic%20kuwa i%20type%20cardioskeletal%20syndrome Cardiospondylocarpo hp://www.orpha.net/consor/cgi-bin/ Short Stature facial Syndrome OC_Exp.php?lng=en&Expert=3238 Carey-Fineman-Ziter hps://www.degruyter.com/downloadpdf/j/ Short Stature Syndrome crpm.2012.1.issue-1-2/crpm-2012-0028/ crpm-2012-0028.pdf Carnevale Syndrome hps://www.ncbi.nlm.nih.gov/medgen/ Part of 3M 167115 Syndrome Carney Complex hps://rarediseases.info.nih.gov/diseases/ Excess GH 1119/carney-complex Carpenter Syndrome hp://www.gosh.nhs.uk/medical-informaon/ Short Stature, carpenter-syndrome Precocious Puberty Carpenter-Waziri hps://rarediseases.org/rare-diseases/alpha- Alpha Thalassemia X- Growth Failure Syndrome thalassemia-x-linked-Intellectual-disability- linked Intellectual syndrome/ Disability Syndrome; ATR-X Syndrome; Holmes-Gang Syndrome; XLID- hypotonic Face Syndrome; X-linked Intellectual Disability - Arch Fingerprints- Hypotonia Syndrome Carlage-Hair hps://ghr.nlm.nih.gov/condion/carlage- Short Stature, Hypoplasia hair-hypoplasia Short Limbs CASK-Related hps://rarediseases.info.nih.gov/diseases/ Growth Disorders 12670/cask-Related-disorders Retardaon Caspase-8 Deficiency hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Short Stature PMC4439260/ Castleman Disease hp://onlinelibrary.wiley.com/doi/10.1111/j. Short Stature 1442-200X.2012.03589.x/abstract Castleman's hps://www.hindawi.com/journals/cripe/ Short Stature Syndrome 2015/689206/

108 Cat Eye Syndrome hps://rarediseases.org/rare-diseases/cat- CES; Chromosome 22, Short Stature, eye-syndrome/ Inverted Duplicaon IUGR (22pter-22q11); Chromosome 22, Paral Tetrasomy (22pter-22q11); Chromosome 22, Paral Trisomy (22pter-22q11); Schmid-Fraccaro Syndrome Cataract hp://disorders.eyes.arizona.edu/disorders/ Short Stature cataracts-ataxia-short-stature-and-mental- retardaon Cataract, Aberrant hps://www.omim.org/entry/115645 Cataract, Aberrant Growth Oral Frenula, and Oral Frenula, and Retardaon Growth Retardaon Growth Retardaon Cataract, Ataxia, hps://rarediseases.info.nih.gov/diseases/ CASM Syndrome Short Stature Mental Retardaon, 10222/cataracts-ataxia-short-stature-and- Deafness, mental-retardaon Polyneuropathy Cataract, Mental hp://disorders.eyes.arizona.edu/disorders/ USE THIS NAME- As Short Stature Retardaon, Dentate marinesco-sjogren-syndrome Other is more of a Gyrus Atrophy Descripon Marinesco-Sjogren Syndrome hps:// www.ncbi.nlm.nih.gov /medgen/6222 Cataract-Ataxia- hps://www.omim.org/entry/212710? Short Stature Deafness-Retardaon search=Cataract%2C%20ataxia%2C%20mental Syndrome %20retardaon%2C%20deafness%2C%20poly neuropathy%20AND%20STATURE&highlight=a taxy%20atacc%20mental%20deafness%20de af%20ataxia%20stature%20retardaon%20ata xic%20polyneuropathy%20cataract Cataract-Deafness- hp://www.malacards.org/card/ Schaap Taylor Short Stature Hypogonadism cataract_deafness_hypogonadism_syndrome? Baraitser Syndrome Syndrome search=Cataract-Deafness- Hypogonadism+syndrome Cataracts, Aberrant hps://www.omim.org/entry/115645? Short Stature oral Frenula, Growth search=Cataracts%2C%20aberrant%20oral%20 Retardaon frenula%2C%20Growth%20retardaon&highli ght=fraenula%20frenula%20Growth%20retard aon%20oral%20aberrant%20cataract Cataracts, Aniridia, hps://ojrd.biomedcentral.com/arcles/ Short Stature Anophthalmia- 10.1186/1750-1172-2-47 Microphthalmia, CNS Defects

109 Cataracts, Ataxia, hps://www.omim.org/entry/300619 Short Stature Short Stature, and Mental Retardaon Cataracts, hps://www.omim.org/entry/608278 Growth Contractures, Corcal Retardaon Dysplasia, Cerebellar Atrophy, Osteoporosis, Growth & Mental Retardaon Cataracts, Deafness, hp://www.orpha.net/consor/cgi-bin/ Schaap-Taylor- Short Stature Short Stature, Disease_Search.php? Baraitser Syndrome Hypertrichosis, lng=EN&data_id=3222&Disease(s)/ Hypogonadism group%20of%20diseases=Cataract--- deafness---Hypogonadism&tle=Cataract--- deafness--- Hypogonadism&search=Disease_Search_Simp le Cataracts, Growth hp://www.orpha.net/consor/cgi-bin/ Cataract-Growth Growth hormone Hormone Deficiency, OC_Exp.php?lng=en&Expert=436174 Hormone Deficiency- Deficiency Sensory Neuropathy, Sensory Neuropathy- Sensorineural Sensorineural Hearing Hearing Loss, and Loss-Skeletal Skeletal Dysplasia Dysplasia Syndrome Cataracts, Short hps://www.ncbi.nlm.nih.gov/pubmed/ Short Stature Stature, Motor 8779323 Neuronopathy Catel-Manzke hp://jmg.bmj.com/content/jmedgenet/ Catmans; Short Stature Syndrome 23/3/271.full.pdf Hyperhalangy- Clinodactyly of Index Finger with Pierre Robin Syndrome; Pierre Robin Syndrome with Hyperphalangy and Clinodactyly; Index Finger Anomaly with Pierrre Robin Syndrome; Palatodigital Syndrome, Catel- Manzke Type; Micrognathia Digital Syndrome Catshl Syndrome hps://www.omim.org/entry/610474? Camptodactyly, Tall Tall Stature search=Catshl%20syndrome%20&highlight=sy Stature, and Hearing ndromic%20catshl%20syndrome Loss Syndrome; CATSHLS Caudal Appendage hp://www.orpha.net/consor/cgi-bin/ Caudal Appendage- Short Stature Deafness OC_Exp.php?lng=en&Expert=1123 Deafness Syndrome 110 Caudal Dppendage, hps://www.ncbi.nlm.nih.gov/pubmed/ Caudal Appendage- Short Stature Short Phalanges, 7894739 Short Terminal Deafness Phalanges-Deafness Syndrome Cavum Septum hps://www.omim.org/entry/234250? Hall-Riggs Mental Short Stature Pellucidum, Seizures, search=Cavum%20septum%20pellucidum%2C Retardaon Syndrome Mental Retardaon %20seizures%2C%20mental%20retardaon&h ighlight=mental%20pellucidum%20seizure%20 cavum%20retardaon%20septum Cayler Cardiofacial hps://www.omim.org/entry/125520? Depressor Anguli Oris Failure to Thrive Syndrome search=Cayler%20Cardiofacial%20syndrome& Muscle, Hypoplasia of highlight=syndromic%20cayler%20syndrome% Asymmetric Crying 20cardiofacial Facies; ACF; Facial Paresis, Paral, Unilateral CDKL5 Early-Onset hps://www.omim.org/entry/300672 Epilepc Precocious Encephalopathy Encephalopathy, Early Puberty Infanle, 2; EIEE2; Infanle Spasm Syndrome, X-LINKED 2; ISSX2 CDKL5 Gene hp://www.nature.com/ejhg/journal/v23/n7/ Precocious Duplicaon full/ejhg2014217a.html Puberty and Short Stature Celiac Disease hps://www.verywell.com/can-celiac-disease- Short Stature cause-short-stature-563124 Cenani-Lenz Type hps://www.omim.org/entry/212780 Cenani Syndactylism; Irregular Bone Syndactyly Cenani-Lenz Growth Syndactyly; Syndactyly, Type VII Central hps://www.ncbi.nlm.nih.gov/pubmed/ Hypothyroidism, Delayed Growth Hypothyroidism, 8618802 Central, and Tescular Tescular Enlargement; CHTE Enlargement Central Precocious hps://www.ncbi.nlm.nih.gov/pubmed/ Precocious Puberty 15073143 Puberty, Short Stature Central Sclerosis, hps://ghr.nlm.nih.gov/condion/netherton- Netherton Syndrome Short Stature Bamboo hair, syndrome Ichthyosis Centromeric hp://www.familydiagnosis.com/diseases/ Short Stature, Instability of centromeric-instability-of-chromosomes-1-9- Growth Chromosomes 1,9 and-16-and-immunodeficiency/ Abnormality and 16 and symptoms.htm Immunodeficiency

111 Centronuclear hp://research-informaon.bristol.ac.uk/en/ Short Stature Myopathy, publicaons/a-case-of-centronuclear- Hypertelorism, Cafe myopathy-dysmorphisms-short-stature- Au Lait Spots prominent-cerebellar-folia-with-mixed- central-and-peripheral-signs-can-a- mulsystem-condion-with-autophagy- provide-a-unified-explanaon- (b82bdf96-8f0f-4a92-8efe-0bc274f7b706)/ export.html Cerebellar Ataxia and hp://jmg.bmj.com/content/40/1/e2 Short Stature Hypogonadotropic Hypogonadism Cerebellar Ataxia, hps://www.ncbi.nlm.nih.gov/books/ Congenital Disorders Failure to Thrive Developmental NBK1332/ of Glycosylaon (CDG- Deleonay, Failure to N) Thrive Cerebellar Ataxia, hps://www.omim.org/entry/224050 CAMRQ1; Cerebellar Short Stature Mental Retardaon, Hypoplasia, VLDLR- and Dysequilibrium Associated; Cerebellar Syndrome 1; Ataxia and Mental CAMRQ1 Retardaon with or Without Quadrupedal Locomoon 1; Cerebellar Ataxia, Congenital, and Mental Retardaon, Autosomal Recesive; Dysequilibrium Syndrome; DES Cerebellar Ataxia, hps://www.omim.org/entry/610185 Cerebellar Ataxia, Short Stature Mental Retardaon, Mental Retardaon, and Dysequilibrium and Dysequilbrium Syndrome 2 Syndrome 2; CAMRQ2 Cerebellar Hypoplasia hp://www.malacards.org/card/ Growth/Size and Mental cerebellar_hypoplasia_and_mental_retardao Retardaon with or n_with_or_without_quadrupedal_locomoon Without _1 Quadrupedal Locomoon Cerebellar Hypoplasia hps://www.omim.org/entry/213002 Cerebellar Hypoplasia Short Stature with Endosteal with Endosteal Sclerosis Sclerosis Cerebellar hps://ghr.nlm.nih.gov/condion/vldlr- VLDLR Short Stature Hypoplasia, Associated-cerebellar-hypoplasia Congenital lymphoedema

112 Cerebellar hps://www.ncbi.nlm.nih.gov/pubmed/ Short Stature Hypoplasia, 1776639 Endosteal Sclerosis, Mental Retardaon Cerebellofaciodental hp://www.uniprot.org/diseases/DI-04315 Short Stature Syndrome Cerebello-Oculo- hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Growth Factor Renal Syndrome, PMC3209578/ Disrupons male Inferlity, NPHP4 Mutaons Cerebellooculorenal hps://rarediseases.org/rare-diseases/ Cerebello-Oculo-Renal Also, Part of Syndrome, Type 1 joubert- Syndrome, Type 1 Joubert Syndrome Cerebello-Trigeminal- hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Gomez-Lopez- Short Stature Dermal Dysplasia PMC3214317/ Hernandez Syndrome Cerebral Calcificaon, hps://www.ncbi.nlm.nih.gov/books/ Primary Familial Brain Short Stature Opalescent Teeth, NBK1421/ Calcificaon (PFBC) Phosphaturia Cerebral Calcificaon- (See Cerebellar Hypoplasia, Congenital VLDR Short Stature Cerebellar Hypoplasia lymphedema)

Cerebral hp://www.gamuts.net/display.php?id=25614 http:// Growth Failure Calcificaons, Kahn- www.gamuts.net/ Markowitz Type display.php? id=27584 Cerebral Creane hps://www.omim.org/entry/300352 CCDS1; Creane Short Stature Deficiency Syndrome Deficiency Syndrome, 1 X-Linked; Creane Transporter Defect; Mental Retardaon, X- Linked, with Seizures, Short Stature, and Midface Hypoplasia; Mental Retardaon, X- Linked, with Creane Transport Deficiency Cerebral Dysgenesis, hp://www.malacards.org/card/ Failure to Thrive Neuropathy, cerebral_dysgenesis_neuropathy_ichthyosis_a Ichthyosis, nd_palmoplantar_keratoderma_syndrome? Palmoplantar search=short+stature Keratoderma Syndrome Cerebral Gigansm hp://www.orpha.net/consor/cgi-bin/ Cramer- Cerebral Jaw Cysts OC_Exp.php?lng=EN&Expert=2081 Niederdeleonlmann Gigansm Syndrome

113 Cerebral Lacc hps://www.ncbi.nlm.nig.gov/pubmed/ Mitochondrial Short Stature Acidosis 6093682 Myopathy, Encephalopathy, Lacc Acidosis, and Strokelike Episodes: A Disncve Clinical Syndrome. Cerebral Palsy hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Short Stature PMC2940749/ Cerebro Facio hps://www.ncbi.nlm.nih.gov/pubmed/ Pascual-Castroviejo Short Stature Thoracic Dysplasia 1204988 Syndrome; Cerebrofaciothoracic Dysplasia Cerebro-Ccosto- hps://rarediseases.info.nih.gov/diseases/ Cerebrocostomandibu Short Stature Mandibular 6026/index lar Syndrome; CCMS; Syndrome CCM Syndrome; Rib gap Defects with Micrognathia Cerebro-Cerebellar hps://www.ncbi.nlm.nih.gov/pmc/arcles/ CUL4B Malformaons Short Stature Lissencephaly Variant PMC4608231/ Cerebro-Facio- hps://rarediseases.info.nih.gov/diseases/ Pascual-Castroviejo Growth Hormone Thoracic Dysplasia 1210/cerebro-Facio-thoracic-dysplasia Syndrome Deficiency Cerebrofrontofacial hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Baraitser–Winter IUGR, Short Syndrome PMC4326722/ Cerebrofrontofacial Stature Syndrome: Renamed to Baraitser–Winter Cerebrofrontofacial Syndrome; BWCFF Cerebro-Oculo-Facio- hps://rarediseases.info.nih.gov/diseases/ IUGR Skeletal Syndrome 6027/cerebro-oculo-Facio-skeletal-syndrome Cerebrooculofacioske hp://www.malacards.org/card/ Cerebro-Oculo-Facio- Failure to Thrive letal Syndrome 4 cerebrooculofacioskeletal_syndrome_4? Skeletal Syndrome 4 search=Cerebrooculofacioskeletal+syndrome+ 4 Cerebro-Oculo- hp://www.malacards.org/card/ Joubert Syndrome Global Hepato-Renal joubert_syndrome_with_oculorenal_anomalie with Oculorenal Development Syndrome s?search=Cerebro-oculo-hepato- Anomalies Deleonay renal+syndrome Cerebro-Oculo- hp://www.checkorphan.org/diseases/ Cerebro Oculo Skeleto Short Stature, Skeletal-Renal cerebro-oculo-skeleto-Renal-syndrome Renal Syndrome Retarded Fetal Syndrome Growth

114 Cerebro-Reno Digital hps://www.researchgate.net/publicaon/ Cerebro-Renal-Digital Overgrowth Syndromes 21139702_The_cerebro-reno- Syndrome, Lurie (G) Disorders digital_syndromes_a_new_community Type; Cerebro-Renal- Digital Syndrome, Piantanida Type; Cerebrorenodigital Syndrome with Limb Malformaons and Triradiate Acetabula Cerebrorenal hps://www.omim.org/entry/612199 CRMCC; COATS Plus Post Natal Growth Microangiopathy Syndrome Failure with Calcificaons and Cysts 1 Cerebrorenal hps://www.omim.org/entry/617341? Cerebrorenal IUGR Microangiopathy, search=Cerebrorenal%20microangiopathy%2 Microangiopathy with Calcificaon, Cysts 2 C%20calcificaon%2C%20cysts%202&highligh Calcificaons and t=microangiopathy%202%20calcificaon%20c Cysts 2; CRMCC2 erebrorenal%20cyst Chadarevian-Kaplan hps://rarediseases.info.nih.gov/diseases/ Acrocraniofacial Short Stature Syndrome 3075/kaplan-plauchu-fitch-syndrome and Dysostosis and then then to hp://www.malacards.org/card/ ACRO akas to Kaplan- acrocraniofacial_dysostosis? Plauchu-Fitch search=Acrocraniofacial+dysostosis Syndrome Chagas Disease hps://www.cdc.gov/parasites/chagas/ Growth index.html Retardaon Chanarin Dorfman hp://www.malacards.org/card/ Short Stature Syndrome chanarin_dorfman_syndrome? search=Ichthyosis%2C+Chanarin+Dorfman+sy ndrome Charcot-Marie-Tooth hps://www.omim.org/entry/606071 Charcot-Marie-Tooth Portporonal Disease Type 2C Disease, Axonal, Short Stature Autosomal Dominant, Type 2C; CMT2C; Charcot-Marie-Tooth Neuropathy, Type 2C Charcot-Marie-Tooth hps://www.ncbi.nlm.nih.gov/books/ Charcot-Marie-Tooth Short Stature Disease with Other NBK1358/ Defects CHARGE Syndrome hps://www.chargesyndrome.org/about- Short Stature charge/overview/ Charlie M Syndrome 3M Syndrome Short Stature Cherubism, Gingival hps://ghr.nlm.nih.gov/condion/cherubism Ramon Syndrome Short Stature Fibrsis, and Short Stature Cherubism, Opc hps://www.ncbi.nlm.nih.gov/pubmed/ Short Stature Atrophy, Short 8281276 Stature 115 CHILD Syndrome hps://rarediseases.org/rare-diseases/ Part of Epidermal Limb Defects epidermal-nevus-syndromes/ Nevus Syn and Growth affecng Childhood Mulple hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Pediatric Mulple Short Stature Sclerosis PMC2824951/ Sclerosis Childhood-Onset hp://www.malacards.org/card/ Short Limbs Nemaline Myopathy childhood_onset_nemaline_myopathy? search=Childhood- Onset+Nemaline+Myopathy Childhood-Onset hp://www.cell.com/ajhg/fulltext/ Short Stature Neurodegeneraon, S0002-9297(16)30230-0 Ataxia, Dystonia, gaze Palsy CHIME Syndrome hp://jmg.bmj.com/content/jmedgenet/ Neuroe Todermal Progressive Short 32/6/465.full.pdf (CHIME Syndrome) Stature Chiy-Baraitser hps://www.ncbi.nlm.nih.gov/gtr/condions/ Chiy Hall Baraitser Growth Syndrome C1832438/ Syndrome Retardaon Choanal Atresia, hp://www.sciencedirect.com/science/ Solitary Median Short Stature, Hypothelia, Speech arcle/pii/S1079210497903681 Maxillary Central IGHD, Precocious Deleonay Incisor, Short Stature, Puberty Choanal Atresia/ Midnasal Stenosis (SMMCI) Syndrome Choanal Atresia, hp://jround.co.uk/publicaons/full/ Short Stature Hypothelia-Athelia, choanal.pdf Hypoplasc Thyroid Choanal Atresia, AXENFELD-RIEGER Short Stature Maxillary Hypoplasia, Syndrome, Type 1; Prognathism, RIEG1; RIEGER Hypodona Syndrome, Type 1; RIEG; RGS Cholestasis, hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Progressive Familial Short Stature Progressive Familial PMC4110573/ Intrahepac Intrahepac Cholestasis Cholestasis, hp://www.malacards.org/card/ Failure to Thrive Progressive Familial cholestasis_progressive_familial_intrahepac_ Intrahepac 2 2? search=Cholestasis%2C+Progressive+Familial+I ntrahepac+2 Chondrodyslasia, hp://www.malacards.org/card/ Chondrodyslasia Short Stature Megarbane-Dagher- spondylometaphyseal_dysplasia_megarbane_ Melki Type dagher_melike_type Chondrodysplasia hp://www.malacards.org/card/ Short Stature Grebe Type chondrodysplasia_grebe_type? search=Chondrodysplasia++Grebe+Type

116 Chondrodysplasia hp://www.malacards.org/card/ Severe Short Calcificans chondrodysplasia_calcificans_metaphysealis? Stature Metaphysealis search=Chondrodysplasia+Calcificans+Metaph ysealis Chondrodysplasia hp://www.malacards.org/card/ Maroteaux-Stanescu- Short Stature Lethal Recesive chondrodysplasia_lethal_recessive? Cousin Syndrome search=Chondrodysplasia+Lethal+Recessive Chondrodysplasia hp://www.esdn.org/eug/digitalAssets/ hp://www.esdn.org/ Short Stature Ossificans 0/367_ESDN_MCDSv6.pdf eug/digitalAssets/ Metaphysealis 0/367_ESDN_MCDSv6 .pdf Chondrodysplasia hps://omim.org/entry/600092 IUGR Pseudohermaphrodi sm Syndrome Chondrodysplasia hps://www.omim.org/entry/118650 Short Stature Punctata, Autosomal Dominant Chondrodysplasia hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Brachytelephalangic Short Stature Punctata, PMC4898183/ Chondrodysplasia Brachytelephalangic, Punctata; BCDP Zizka Type Chondrodysplasia hps://www.ncbi.nlm.nih.gov/pubmed/ Short Limbs Punctata, Humero- 8862628 (Upper) Metacarpal Type Chondrodysplasia hp://jmg.bmj.com/content/jmedgenet/ Short Stature Punctata, Mild- 35/12/1004.full.pdf Symmetrical Type Chondrodysplasia hps://link.springer.com/arcle/10.1007/ punctata, Morer s002470050466 Type Chondrodysplasia hps://www.omim.org/entry/215100? Rhizomelic Chondrody Short Stature Punctata, Rhizomelic, search=RHIZOMELIC%20CHONDROdysplasia% splasia Punctata, Type 1 20PUNCTATA%2C%20TYPE%201&highlight=pu TYPE 1; RCDP1; nctata%201%20type%20rhizomelic%20chondr Peroxisome odysplasia Biogenesis Disorder 9; PBD9; Chondrodysplasia Punctata, Rhizomelic Form; CDPR; Chondrodystrophia Calcificans Punctata

117 Chondrodysplasia hps://www.omim.org/entry/222765 Rhizomelic Short Stature Punctata, Rhizomelic, Chondrodysplasia Type 2 Punctata, Type 2; RCDP2; Dihydroxyacetonepho sphate Acyltransferase Deficiency; DHAPAT Deficiency; Glyceronephosphate O-Acyltransferase Deficiency; GNPAT Deficiency; Peroxisomal Dihydroxyacetonepho sphate Acyltransferase Deficiency; Chondrodysplasia Punctata, Rhizomelic, due to Dihydroxyacetonepho sphate Acyltransferase Deficiency Chondrodysplasia hps://www.omim.org/entry/600121? Rhizomelic Short Stature Punctata, Rhizomelic, search=RHIZOMELIC%20CHONDROdysplasia% Chondrodysplasia Pun Type 3 20PUNCTATA%2C%20TYPE%203&highlight=pu ctata,Type 3; RCDP3; nctata%203%20type%20rhizomelic%20chondr Alkyldihydroxyacetone odysplasia phosphate Synthase Deficiency; Alkylgycerone- Phosphate Synthase Deficiency; AGPS Deficiency Chondrodysplasia hps://www.omim.org/entry/118651? Chondrodysplasia Short Stature Punctata, Tibia- search=Chondrodysplasia%20Punctata%2C%2 Punctata, MT Type Metacarpal Type 0Tibia- Metacarpal%20Type&highlight=punctata%20c hondrodysplasia%20metacarpal%20biameta carpal%20type%20bia Chondrodysplasia hp://www.malacards.org/card/ Chondrodysplasia Short Stature Punctata, Toriello- chondrodysplasia_punctata_syndrome Punctata, X-Linked Miller Type Dominant Type; Toriello-Higgins-Miller Syndrome; Chondrodysplasia Punctata, Toriello Type; Chondrodysplasia Punctata Congenita; Chondrodysplasia Calcificans Congenita

118 Chondrodysplasia hp://www.malacards.org/card/ Chondrodysplasia Short Stature Punctata, X-Linked chondrodysplasia_punctata_x_linked_domina Punctata 2, X-Linked Dominant nt?search=short+stature Dominant; Conrad Hunermann Happle Syndrome; Chondrodystrophia Calcificans Congenita ; Carlage-Hair Hypoplasia; Conradi Hunermann Syndrome Chondrodysplasia hp://www.malacards.org/card/ Chondrodysplasia Short Stature Punctata, X-Linked chondrodysplasia_punctata_x_linked_recessiv Punctata 1, X-Linked Recesive e?search=Chondrodysplasia+Punctata%2C+X- Recesive; Linked+Recessive Chondrodysplasia Punctata Brachytelephalangic; X-Linked Recesive Chondrodysplasia Punctata 1;Arylsulfatase E Deficiency; Brachytelephalangic Chondrodysplasia Punctata Chondrodysplasia hp://www.malacards.org/card/ Chondrodysplasia Short Stature with Joint chondrodysplasia_with_joint_dislocaons_gra with Joint Dislocaons, Grapp pp_type? Dislocaons, Grapp Type search=Chondrodysplasia+with+Joint+Disloca Type ons%2C+Grapp+Type Chondrodysplasia hp://www.malacards.org/card/ X-Linked Dominant Short Stature with Platyspondyly, chondrodysplasia_with_platyspondyly_disnc Chondrodysplasia, Disncve ve_brachydactyly_hydrocephaly_and_microp Chassaing-Lacombe Brachydactyly, hthalmia? Type; Hydrocephaly and search=Chondrodysplasia+with+Platyspondyly Chondrodysplasia Microphthalmia %2C++Disncve+Brachydactyly%2C+ with Platyspondyly, +Hydrocephaly++and+Microphthalmia Disncve Brachydactyly, Hydrocephaly, and Microphthalmia 52 70 27; X-Linked Dominant Chondrodysplasia- Hydrocephaly- Microphthalmia Syndrome

119 Chondrodysplasia, hp://www.malacards.org/card/ Blomstrand Lethal Short Stature Blomstrand Type chondrodysplasia_blomstrand_type_2? Chondrodysplasia; search=Chondrodysplasia%2C+Blomstrand+Ty Blomstrand Lethal pe Chondrodysplasia; Blomstrand Chondrodysplasia; Blomstrand Lethal Osteochondrodysplasi a Chondrodysplasia, hps://www.omim.org/entry/614078 Chondrodysplasia Short Stature Joint Dislocaons, with Joint IMPAD1 Mutaons Dislocaons, GPAPP Type; GPAPP Deficiency Chondrodysplasia, hps://www.omim.org/entry/143095 Spondyloepiphyseal Pre and Postnatal Joint Dislocaons, Dysplasia with Short Stature Megarbane-Ghanem Congenital Joint Type Dislocaons; SEDCJD; Humerospinal Dysostosis; HSD; Spondyloepiphyseal Dysplasia, OMANI Type; Chondrodysplasia with Mulple Dislocaons; CDMD Chondrodysplasia- hps://www.omim.org/entry/600092? Chondrodysplasia- Severe Dwarfism Pseudohermaphrodi search=Chondrodysplasia- Pseudohermaphrodi sm pseudohermaphrodism&highlight=chondrod sm Syndrome ysplasiapseudohermaphrodism%20pseudoh ermaphrodism%20chondrodysplasia Chondroectodermal hps://www.semancscholar.org/paper/A- Short Stature Dysplasia with Night novel-chondroectodermal-dysplasia-mapped- Blindness to-chro-Khan-Basit/ 867c9363dd74782c8bdb29f46f9daa1959aa 16 CHOPS Syndrome hps://ghr.nlm.nih.gov/condion/chops- Short Stature syndrome Choreoacanthocytosi hp://www.malacards.org/card/ Short Stature s choreoacanthocytosis Chorioamnionis hp://www.malacards.org/card/ Short Stature choreoacanthocytosis Choriorenal hps://www.ncbi.nlm.nih.gov/pubmed/ Short Stature Dysplasia, 22266624 Microcephaly, Mental Retardaon

120 Choriorenal hp://jmg.bmj.com/content/40/1/e2 Short Stature Dystrophy, Cerebellar Ataxia, Hypogonadism Choroideremia hp://www.malacards.org/card/ Short Stature Hypopituitarism choroideremia_hypopituitarism? search=short+stature Choroideremia, hp://www.pnas.org/content/ hps:// Short Stature Deafness, Obesity 84/18/6521.full.pdf www.ncbi.nlm.nih.gov /pmc/arcles/ PMC1683514/pdf/ ajhg00107-0048.pdf Chromophobe Renal hps://www.omim.org/entry/174900? Short Stature Cell Carcinoma search=juvenile%20Chromophobe%20Renal% 20Cell%20Carcinoma%20and%20stature&high light=juvenile%20renal%20carcinomatous%20 cell%20carcinoma%20stature%20chromophob e Chromosome 3, hps://www.ncbi.nlm.nih.gov/pmc/arcles/ 3q26.33-3q28 Short Stature 3q26.33-3q28 PMC4974439/ Microdeleon Microdeleon Chromosome 1, hp://jmg.bmj.com/content/jmedgenet/ Chrome 1q Growth Failure, Deleon 1p(p21-p32) 16/4/323.full.pdf Duplicaon Disorders Short Stature Chromosome 1, hps://www.arca.fiocruz.br/bitstream/icict/ Growth Deleonay Deleon 10650/2/deleon%20(1)(p32.3- 1p(p32.1p32.3) p32.3)%20detected%20by%20array- CGH%20in%20a%20paent%20with%20Devel opmental%20deleonaymental%20retardao n,%20dysmorphic...pdf Chromosome 1, hp://www.tjog-online.com/arcle/ Chromosome 1p32- IUGR Deleon 1p32-1p31 S1028-4559(11)00137-9/abstract p31 Deleon Syndrome; CAMTA1 CANPMR Syndrome; Brain Malformaons and Urinary Tract DefectS; BRMUTD Chromosome 1, hps://www.ncbi.nlm.nih.gov/pmc/arcles/ IUGR Deleon 1p34 PMC4795073/ Chromosome 1, hps://www.ncbi.nlm.nih.gov/books/ Short Stature Deleon 1p36 NBK1191/ Chromosome 1, hps://www.ncbi.nlm.nih.gov/pubmed/ 1q24q25 Dwarfism Deleon 1q(q25q32) 3314663 Microdeleon Syndrome Chromosome 1, hps://www.ncbi.nlm.nih.gov/pmc/arcles/ De novo intersal Proporonate Deleon 1q24-q25 PMC3109510/ Deleon Deleon (1) Growth Deficiency (p2 lp32) 121 Chromosome 1, hp://www.rarechromo.org/informaon/ Short Stature Deleon 1q43-q44 chromosome%20%201/1q4%20deleons%20 Syndrome nw.pdf Chromosome 1, hp://www.checkorphan.org/diseases/ Short Stature Distal 1q Trisomy chromosome-1-trisomy-1q42-qter Chromosome 1, hps://rarediseases.info.nih.gov/diseases/ Short Stature Duplicaon 1p 10832/chromosome-1p-duplicaon Chromosome 1, hps://rarediseases.info.nih.gov/diseases/ Chromosome 1q Short Stature Duplicaon 1q 10831/chromosome-1q-duplicaon Duplicaon; Duplicaon 1q; Trisomy 1q; 1q Duplicaon; 1q Trisomy; Paral Trisomy 1q Chromosome 1, hp://jmg.bmj.com/content/39/12/e79 over Growth Duplicaon 1q(q12q22) Chromosome 1, hps://www.nature.com/onc/journal/v21/ Short Stature Duplicaon n32/full/1205628a.html 1q(q25q32) Chromosome 1, hp://www.rarechromo.org/informaon/ 1q21.1 Growth Delnay Duplicaon 1q21.1 Chromosome%20%201/1q21.1%20microdupli Microduplicaons caons%20FTNW.pdf Chromosome 1, hps://www.karger.com/Arcle/Pdf/106446 Trisomy 1q42→qter Growth Duplicaon 1q41-qter Syndrome’ Retardaon Chromosome 1, hp://www.rarechromo.org/informaon/ Short Stature Intersal Deleon Chromosome%20%201/1p%20intersal%20d 1p eleons%20FTNW.pdf Chromosome 1, hps://www.ncbi.nlm.nih.gov/pubmed/ GHD, Growth Intersal Deleon 18925675 Retardaon 1q(q24.1q25.3) Chromosome 1, hps://rarediseases.info.nih.gov/diseases/ Chromosome 1q21.1 Failure to Thrive Microdeleon 1q21.1 10813/1q211-microdeleon-syndrome Microdeleon Syndrome; 1q21.1 Microdeleon; Monosomy 1q21.1 Chromosome 1, hps://www.omim.org/entry/612530 Chromosome 1, Short Stature Microdeleon 1q41- Microdeleon q42 1q41q42 Chromosome 1, hps://www.ncbi.nlm.nih.gov/pubmed/ Chromosome 1, IUGR Microduplicaon 19452620 Microduplicaon 1p34.1 1p34.1 Chromosome 1, hp://mosaicism.bcchr.ca/specific/ Trisomy 1 Mosaicism IUGR Mosaic Trisomy 1 trisomy1.htm

122 Chromosome 1, hps://www.ncbi.nlm.nih.gov/pmc/arcles/ 1p36 Deleon Short Stature Proximal 1p36 PMC4555966/ Syndrome Deleon Chromosome 10, hps://rarediseases.info.nih.gov/diseases/ Chromosome 10p IUGR Deleon 10p11-p12 1323/chromosome-10p-deleon Deleon Chromosome 10, hps://omim.org/entry/609625 Terminal Short Stature Distal Deleon 10q Chromosome 10q26 Deleon Syndrome Chromosome 10, hps://rarediseases.org/rare-diseases/ Chromosome 10, Short Stature Distal Trisomy 10 chromosome-10-distal-trisomy-10q/ Distal Trisomy 10q; Chromosome 10, Paral Trisomy 10q24- qter; Chromosome 10, Trisomy 10q2; Distal Duplicaon 10q; Distal Trisomy 10q Syndrome; dup(10q) Syndrome Chromosome 10, hp://www.rarechromo.org/informaon/ Chromosome 10, Short Stature Duplicaon 10(q11- Chromosome%2010/10q%20duplicaons%20 Duplicaon 10(q11- q22) FTNW.pdf q22) Chromosome 10, hp://www.rarechromo.org/informaon/ Duplicaon 10q; Short Stature Duplicaon 10q Chromosome%2010/10q%20duplicaons%20 Trisomy 10q; 10q FTNW.pdf Duplicaon; 10q Trisomy; Paral Trisomy 10q Chromosome 10, hp://www.sciencedirect.com/science/ Chromosome 10q Postnatal Growth Intersal Deleon arcle/pii/S1875957212001714 Deleon del (10) Retardaon 10q (q26.1q26.3) Chromosome 10, hps://rarediseases.org/rare-diseases/ Chromosome 10, Short Stature Paral Deleon 10p chromosome-10-monosomy-10p/ Monosomy 10p; 10p Deleon Syndrome (paral); Chromosome 10, 10p- Paral; Chromosome 10, Paral Deleon (Short arm) Chromosome 10q26 hps://omim.org/entry/609625 Chromosome 10q26 Short Stature Deleon Syndrome Deleon Syndrome

123 Chromosome 11 hps://books.google.com/books? Chromosome WAGR Growth Deleon 11p13 id=bonlLHarTFAC&pg=PA325&lpg=PA325&dq= 11 Deleon 11p13 Retardaon Syndrome Chromosome+17,+deleon+17p13.1- Syndrome p11.2+AND+STATURE&source=bl&ots=PeO- ygeCk8&sig=XkHCGxT0zaaV-- lKGi1JRFV9rk8&hl=en&sa=X&ved=0ahUKEwjth cO8hefUAhVFNSYKHcQPARYQ6AEITTAH#v=on epage&q=Chromosome%2017%2C%20deleo n%2017p13.1- p11.2%20AND%20STATURE&f=false Chromosome 11 hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Short Stature Deleon 11q14.3q21 PMC4108053/ Chromosome 11 hps://books.google.com/books? Jacobsen's Syndrome Short Stature Deleon 11q23.3qtr id=bonlLHarTFAC&pg=PA325&lpg=PA325&dq= Chromosome+17,+deleon+17p13.1- p11.2+AND+STATURE&source=bl&ots=PeO- ygeCk8&sig=XkHCGxT0zaaV-- lKGi1JRFV9rk8&hl=en&sa=X&ved=0ahUKEwjth cO8hefUAhVFNSYKHcQPARYQ6AEITTAH#v=on epage&q=Chromosome%2017%2C%20deleo n%2017p13.1- p11.2%20AND%20STATURE&f=false Chromosome 11, hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Post Natal Growth Microduplicaon PMC4698645/ Failure 11p15.4 Chromosome 11, hps://www.ncbi.nlm.nih.gov/pubmed/ Short Stature Microtriplicaon 21617255 11q24.1 Chromosome 11, hps://rarediseases.org/rare-diseases/ Chromosome 11, Pre-and post Natal Mosaic Trisomy 11 chromosome-11-paral-trisomy-11q/ Paral Trisomy 11q; Growth 11q Paral Trisomy; Retardaon Chromosome 11, Paral Trisomy 11q13- qter; Chromosome 11, Paral Trisomy 11q21- qter; Chromosome 11, Paral Trisomy 11q23- qter; Distal Trisomy 11q; Paral Trisomy 11q; Trisomy 11q, Paral

124 Chromosome 11, hps://rarediseases.org/rare-diseases/ Chromosome 11, Pre-and post Natal Paral Deleon 11p chromosome-11-paral-monosomy-11q/ Paral Monosomy Abnormally Slow 11q; 11q- Syndrome, Growth Paral; 11q Terminal Deleon Disorder; Deleon 11q Syndrome, Paral; Distal 11q Monosomy; Distal 11q- Syndrome; Jacobsen Syndrome; JBS; Monosomy 11q, Paral; Paral Monosomy of Long arm of Chromosome 11 Chromosome 11, see Chromosome 11, Mosaic Trisomy 11 Paral Duplicaon 11p Chromosome 11, see Chromosome 11, Mosaic Trisomy 11 Paral Duplicaon 11q Chromosome 11, see Chromosome 11, Mosaic Trisomy 11 Terminal Duplicaon 11q Chromosome 12, De hps://www.ncbi.nlm.nih.gov/labs/pubmed/ Short Stature Novo Trisomy 26852509-clinical-report-of-a-paent-with-de- 12q23.1q24.33 novo-trisomy-12q231q2433/? from_q=Genet+Couns%5Bjournal%5D Chromosome 12, hp://www.rarechromo.org/informaon/ Growth Delay Deleon 12p chromosome%2012/12q%20deleons%20n w.pdf Chromosome 12, hps:// Short Stature Deleon 12q24.31 - molecularcytogenecs.biomedcentral.com/ q24.33 arcles/10.1186/1755-8166-4-9 Chromosome 12, hps://rarediseases.info.nih.gov/diseases/ Chromosome 12q Duplicaon 12p 1926/chromosome-12q-duplicaon Duplicaon; Duplicaon 12q; Trisomy 12q; 12q Duplicaon; 12q Trisomy; Paral Trisomy 12q Chromosome 12, hp://www.rarechromo.org/informaon/ Growth Delay Intersal Deleon chromosome%2012/12q%20deleons%20n 12q w.pdf Chromosome 12, hps:// Chromosome Short Stature Microdeleon molecularcytogenecs.biomedcentral.com/ 12q13.13q13.13 12q13.13 arcles/10.1186/s13039-017-0326-4 Microduplicaon and Microdeleon 125 Chromosome 12, hp://www.scielo.br/scielo.php? Growth Deficiency Microdeleon 12q14 script=sci_arext&pid=S1415-4757201400020 0007 Chromosome 12, hp://www.biomedsearch.com/nih/Clinical- Growth Delay Microdeleon characteriscs-in-paents-with/ 12q21.31q21.32 24375972.html Chromosome 12, see Chromosome 12p Duplicaon Mosaic Paral Duplicaon 12q Chromosome 12, see Chromosome 12p Duplicaon Mosaic Trisomy 12 Chromosome 12, see Chromosome 12p Duplicaon Paral Duplicaon 12q Chromosome 12p hp://www.rarechromo.org/informaon/ Duplicaon Chromosome%2012/12p%20duplicaons%20 FTNW.pdf Chromosome 13 hp://www.rarechromo.org/informaon/ Short Stature Deleon Chromosome%2013/13q%20deleons%20vari 13q12.1-14.1 ous%20FTNW.pdf Chromosome 13, hp://www.malacards.org/card/ IUGR Deleon 13q14 chromosome_13q14_deleon_syndrome? search=short+stature Chromosome 13, hps://www.researchgate.net/publicaon/ Short Stature Deleon 13q33-q34 5648724_Chromosome_deleons_in_13q33-3 4_Report_of_four_paents_and_review_of_t he_literature Chromosome 13, hps://www.ncbi.nlm.nih.gov/pubmed/ Severe Growth Intersal Deleon 14564160 Retardaon 13q Chromosome 13, hp://www.biomedsearch.com/nih/Short- Short Stature Microduplicaon stature-digit-anomalies-dysmorphic/ 13q31.3 24739087.html Chromosome 13, see Chromosome 13q Duplicaon (overview) Short Stature Paral Duplicaon 13p Chromosome 13, see Chromosome 13q Duplicaon (overview) Short Stature Paral Duplicaon 13q

126 Chromosome 13, hps://books.google.com/books? Trisomy 13; Patau Short Stature Trisomy 13 id=bonlLHarTFAC&pg=PA325&lpg=PA325&dq= Syndrome Chromosome+17,+deleon+17p13.1- p11.2+AND+STATURE&source=bl&ots=PeO- ygeCk8&sig=XkHCGxT0zaaV-- lKGi1JRFV9rk8&hl=en&sa=X&ved=0ahUKEwjth cO8hefUAhVFNSYKHcQPARYQ6AEITTAH#v=on epage&q=Chromosome%2017%2C%20deleo n%2017p13.1- p11.2%20AND%20STATURE&f=false Chromosome 13q Duplicaon 13q; Trisomy 13q; 13q Duplicaon Duplicaon; 13q trisomy; Paral trisomy 13q (overview) Chromosome 13q14 hps://www.omim.org/entry/613884 Growth Deficiency Deleon Syndrome Chromosome 14 hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Growth Delay and Intersal Deleon PMC4657200/ Retardaon 14q24-q32 Chromosome 14, hps://omim.org/entry/613457 Chromosome 14q11- Short Stature Deleon 14q11.22 q22 Deleon Syndrome Chromosome 14, hp://www.rarechromo.org/informaon/ Slow Growth Deleon 14q12 Chromosome%2014/14q12%20deleons%20F TNW.pdf Chromosome 14, hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Short Stature Deleon 14q23 PMC1735028/pdf/v039p00081.pdf Chromosome 14, hp://www.rarechromo.org/informaon/ Proporonate Deleon 14q31 and Chromosome%2014/14q%20deleons%20fro Small Stature 14q32.12 m%2014q31%20and%2014q32%20FTNP.pdf Chromosome 14, hp://www.rarechromo.org/informaon/ 14q Deleons IUGR, Growth Intersal Deleon Chromosome%2014/14q%20deleons%20pro Proximal to 14q22 Delay 14q(q22q23) ximal%20to%2014q22%20FTNW.pdf Chromosome 14, hp://www.nature.com/ejhg/journal/v21/n5/ Chromosome 14, Failure to Thrive Microdeleon 14q12 full/ejhg2012208a.html Microdeleon 14q12; Re Syndrome-Like Phenotype Chromosome 14, hps://rarediseases.org/rare-diseases/ Chromosome 14, Growth Delay Mosaic Trisomy 14 chromosome-14-trisomy-mosaic/ Trisomy Mosaic; Trisomy 14 Mosaic; Trisomy 14 Mosaicism Syndrome Chromosome 14, hp://www.checkorphan.org/diseases/ Short Stature Proximal 14q chromosome-14q-proximal-duplicaon Duplicaon Chromosome 14, hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Ring 14 Syndrome Postnatal Growth Ring Chromosome 14 PMC4657200/ Delay

127 Chromosome 15, hp://www.academia.edu/17979810/ Failure to Thrive Deleon Craniosynostosis_in_an_infant_with_an_inter 15q(q15q22.1) sal_deleon_of_15q_46_XY_del_15_q15q2 2.1_ Chromosome 15, hps://www.omim.org/entry/176270? Prader-Willi Short Stature Deleon 15q11.2 search=Chromosome%2015%2C%20duplicao Syndrome, PWS; n%2015q25- Prader-Labhart-Willi qter&highlight=15%20qter%20xv%20chromos Syndrome omal%20duplicaon%20fieen%20chromoso me%2015q25qter Chromosome 15, hp://www.nature.com/ejhg/journal/v10/n1/ Short Stature Deleon 15q11–q14 full/5200760a.html Chromosome 15, hps://www.researchgate.net/publicaon/ Growth Deleon 15q21 10813861_Evidence_for_a_new_microdeleo Retardaon n_syndrome_in_15q21 Chromosome 15, hps://www.omim.org/entry/612626 Chromosome 15q26- Growth Deleon 15q26-qter qter Deleon Retardaon Syndrome; Drayer Syndrome Chromosome 15, hps://rarediseases.org/rare-diseases/ Chromosome 15, Prenatal and Distal Trisomy 15 chromosome-15-distal-trisomy-15q/ Distal Trisomy 15q; Postnatal Growth Chromosome 15, Deleonays Trisomy 15q2; Distal Duplicaon 15q; Paral Duplicaon 15q Syndrome Chromosome 15, hps://rarediseases.org/rare-diseases/ Chromosome 15, Growth Delays Distal Trisomy 15q chromosome-15-distal-trisomy-15q/ Trisomy 15q2; Distal Before and Aer Duplicaon 15q; Birth Paral Duplicaon 15q Syndrome Chromosome 15, hps://rarediseases.info.nih.gov/diseases/ Slow Growth Duplicaon 15q 5314/chromosome-15q-duplicaon Chromosome 15, hps://ghr.nlm.nih.gov/condion/15q133- Short Stature Intersal Deleon microdeleon 15q(q13q15) Chromosome 15, hps://www.ncbi.nlm.nih.gov/pubmed/ Growth intersal Deleon 12684692 Retardaon 15q(q21q25) Chromosome 15, hp://www.orpha.net/consor/cgi-bin/ 15q13.3 Short Stature Microdeleon OC_Exp.php?Lng=EN&Expert=199318 Microdeleon 15q13.3 Syndrome Chromosome 15, hp://www.scielo.br/scielo.php? Growth Delay Microdeleon 15q24 script=sci_arext&pid=S1415-4757201400020 0007

128 Chromosome 15, hps://omim.org/entry/614294 Chromosome 15q25 Short Stature Microdeleon Deleon Syndrome 15q25.2 Chromosome 15, hps://www.omim.org/entry/612626 Chromosome 15q26- Short Stature Microdeleon qter Deleon 15q26.1 Syndrome; Drayer Syndrome Chromosome 15, hp://www.rarechromo.org/informaon/ Short Stature Proximal Deleon Chromosome%2015/15q%20deleons%20FTN 15q W.pdf Chromosome 15, hps://ojrd.biomedcentral.com/arcles/ The inv Duplicaon Short Stature Tetrasomy 15q 10.1186/1750-1172-3-30 (15) or Idic (15) Syndrome (Tetrasomy 15q) Chromosome hp://onlinelibrary.wiley.com/doi/10.1002/ Intersal Duplicaon Short Stature 15q11q13 aur.1284/full 15q11.2-q13 Duplicaon Syndrome Syndrome Chromosome 15q14 hp://www.malacards.org/card/ Short Stature Deleon Syndrome 15q14_microdeleon_syndrome? search=short+stature Chromosome hps://www.omim.org/entry/134797? Fibrillin 1; FBN1 Overgrowth 15q21.1 Deleon search=Chromosome%2015%2C%20deleon% 2015q%28q15q22.1%29&highlight=15q%2015 %20fieen%20q15q22%20q15q221%20dele on%20chromosomal%20xv%20chromosome Chromosome 15q24 hps://www.omim.org/entry/613406? Chromosome 15q24 Short Stature Deleon Syndrome search=Chromosome%2015q24%20deleon% Duplicaon 20syndrome&highlight=15q24%20syndrome% Syndrome, included; 20syndromic%20deleon%20chromosomal%2 Wieven-Kolk 0chromosome Syndrome; WITKOS; Chromosome 15q24 Duplicaon Syndrome, Included Chromosome 15q25 hps://www.omim.org/entry/614294? Short Stature Deleon Syndrome search=Chromosome%2015q25%20deleon% 20syndrome&highlight=15q25%20syndrome% 20syndromic%20deleon%20chromosomal%2 0chromosome Chromosome hps://www.ncbi.nlm.nih.gov/pubmed/ Short Stature 16 [deleon(16) 9182777 (q23.1q24.2) Chromosome 16, hps://rarediseases.info.nih.gov/diseases/ Short Stature Duplicaon 16p11.2- 12388/16p112-duplicaon p12.2

129 Chromosome 16, hps://omim.org/entry/614541 Chromosome 16q22 Failure to Thrive Intersal Deleon Deleon Syndrome 16q Chromosome 16, hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Short Stature Microdeleon PMC3548261/ 16p11.2, Ausm Spectrum Disorder Chromosome 16, hps://www.omim.org/entry/613604 Chromosome Short Stature Microdeleon 16p12.2-p11.2 16p12.1 Deleon Syndrome, 7.1- TO 8.7-MB Chromosome 16, hps://www.ncbi.nlm.nih.gov/books/ Short Stature Microdeleon NBK11167/ 16q11.2q12.2 Chromosome 16, hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Short Stature Microdeleon PMC3983590/ 16q24.3 Chromosome 16, hps://rarediseases.info.nih.gov/diseases/ Short Stature Microduplicaon 12388/16p112-duplicaon 16p11.2 Chromosome 16, hps://www.omim.org/entry/613458 Chromosome 16p13.3 Failure to Thrive Microduplicaon Duplicaon 16p13.3 Syndrome; Chromosome 16p13.3 Deleon Syndrome, Proximal Chromosome 16, hps://rarediseases.info.nih.gov/diseases/ Paral Duplicaon 12388/16p112-duplicaon 16p Chromosome 16, hp://www.trisomy16.org/about/ Growth Failure, Trisomy 16 what_are_doc16.html Failure to Thrive Chromosome hps://www.omim.org/entry/613604 16p12.2-p11.2 Deleon Syndrome, 7.1- to 8.7-MB Chromosome hps://rarediseases.info.nih.gov/diseases/ Short Stature 16p13.3 Deleon 10754/chromosome-16p133-deleon- Syndrome syndrome Chromosome hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Precocious 16p13.3 Duplicaon PMC4260201/ (case 7) Puberty Syndrome Chromosome 16- hps://www.ncbi.nlm.nih.gov/books/ Alpha-Thalassemia X- Short Stature Related Alpha- NBK1449/ linked Intellectual Thalassemia/Mental Disability; ATRX Retardaon Syndrome

130 Chromosome 17, hps://www.omim.org/entry/613776 Chromosome 17p13.1 Short Stature/ Deleon 17p13.1- Deleon Syndrome Poor Growth p11.2 Chromosome 17, hps://rarediseases.info.nih.gov/diseases/ Chromosome 17p11.2 Short Stature Duplicaon 17p11.2 5318/chromosome-17p-duplicaon Duplicaon Syndrome; Potocki- Lupski Syndrome; PTLS; Smith-Magenis Syndrome Chromosome 17, hps://www.nature.com/scitable/topicpage/ Short Stature Duplicaon 17p12 dna-deleon-and-duplicaon-and-the- Associated-331 Chromosome 17, hps://www.omim.org/entry/613533 Chromosome Short Stature Duplicaon 17q21.2 17q21.31 Duplicaon Syndrome Chromosome 17, hps://rarediseases.info.nih.gov/diseases/ 17p13.1 Deleon Microdeleon 10996/chromosome-17p131-deleon- Syndrome; Distal 17p13.1 syndrome 17p13.1 Microdeleon Syndrome; Distal Del(17)(p13.1) Chromosome 17, hps://omim.org/entry/614527 Chromosome 17q12 Short Stature Microdeleon 17q12 Deleon Syndrome Chromosome 17, hps://www.omim.org/entry/613533? Chromosome 17q21.3 Short Stature Microdeleon search=Chromosome%20microdeleon%2017 1 Duplicaon 17q21.31 q21.31&highlight=chromosomal%2017q2131 Syndrome %20chromosome%20microdeleon Chromosome 17, hps://rarediseases.info.nih.gov/diseases/ Short Stature Microdeleon 10936/17q231q232-microdeleon-syndrome 17q23.1q23.2 Chromosome 17, hp://www.orpha.net/consor/cgi-bin/ 17q11.2 Short Stature Microduplicaon OC_Exp.php?lng=EN&Expert=139474 Microduplicaon 17q11.2 Syndrome Chromosome 17, hps://www.omim.org/entry/613533 Chromosome Short Stature Microduplicaon 17q21.31 Duplicaon 17q21.31 Syndrome Chromosome 17, hps://omim.org/entry/613618 Chromosome Mild Short Stature Microduplicaon 17q23.1-q23.2 17q23.2 Duplicaon Syndrome Chromosome 17, hp://www.bloodjournal.org/content/ Failure to Thrive Microduplicaon 108/11/1277?sso-checked=true 17q25.3 Chromosome 17, hp://www.checkorphan.org/diseases/ Chromosome 17 Growth Mosaic Trisomy 17 chromosome-17-duplicaon Trisomy Mosaicism; Retardaon Trisomy 17

131 Chromosome 17, hp://www.checkorphan.org/diseases/ Trisomy 17p (T17p) Failure to Thrive, Paral Duplicaon chromosome-17-trisomy-17p Growth 17p Retardaon Chromosome 17, hp://www.rarechromo.org/informaon/ Paral Duplicaon of Short Stature Paral Duplicaon Chromosome%2017/17p%20duplicaons%20 Chromosome 17q; 17q FTNW.pdf Paral Trisomy of Chromosome 17q; Paral Trisomy of the Long arm of Chromosome 17 Chromosome 17p hp://www.malacards.org/card/ Short Stature Duplicaon chromosome_17q_duplicaon Chromosome hps://www.omim.org/entry/247200 Miller-Dieker Failure to Thrive 17p13.3 Deleon Lissencephaly Syndrome, Included Syndrome; MDLS; Miller-Dieker Syndrome Chromosome hp://www.malacards.org/card/ Telometric Duplicaon Tall Stature 17p13.3, chromosome_17p133_centromeric_duplicao Syndrome Centromeric, n_syndrome?search=short+stature Duplicaon Syndrome Chromosome 17q hps://rarediseases.info.nih.gov/diseases/ Deleon 17q; Prematurebirths Deleon 10972/chromosome-17q-deleon Monosomy 17q; 17q and Upper Limb Deleon; 17q Asymmetry Monosomy; Paral Monosomy 17q; Distal Monosomy 17q Chromosome hps://www.omim.org/entry/613675 Neurofibromatosis 1 Tall stature 17q11.2 Deleon Microdeleon Syndrome, 1.4Mb Syndrome; NF1 Microdeleon Syndrome; Van Asperen Syndrome Chromosome 18 hps://ghr.nlm.nih.gov/condion/distal-18q- Distal 18q Deleon Short Stature Distal 18q Deleon deleon-syndrome Syndrome Syndrome Chromosome 18, hp://www.malacards.org/card/ Holoprosecnephaly Failure to Thrive, Deleon 18p11.3 holoprosencephaly? Growth search=Chromosome+18%2C+deleon+18p11 Retardaon .3 Chromosome 18, hp://www.rarechromo.org/informaon/ 18q Deleons from Intersal Deleon Chromosome%2018/18q%20deleons%20fro 18q11.2 to 18q21.2 18q m%20%2018q11.2%20to%2018q21.2%20FTN (name of book) W.pdf

132 Chromosome 18, hps://www.researchgate.net/publicaon/ Short Stature Microdeleon 244942734_Paral_trisomy_of_chromosome_ 18q11.2 18q112-q12_A_case_report Chromosome 18, hps://ojrd.biomedcentral.com/arcles/ Monosomy 18p Short Stature Monosomy 18p 10.1186/1750-1172-3-4 Chromosome 18, hps://www.nature.com/jhg/journal/v53/ Short Stature; Paral Deleon 18p, n10/pdf/jhg2008120a.pdf?origin=ppub hps:// Paral Duplicaon books.google.com 18q /books? id=bonlLHarTFAC& pg=PA325&lpg=PA 325&dq=Chromos ome+17,+deleon +17p13.1- p11.2+AND+STATU RE&source=bl&ots =PeO- ygeCk8&sig=XkHC GxT0zaaV-- lKGi1JRFV9rk8&hl =en&sa=X&ved=0 ahUKEwjthcO8hef UAhVFNSYKHcQPA RYQ6AEITTAH#v=o nepage&q=Chrom osome%2017%2C %20deleon%201 7p13.1- p11.2%20AND%20 STATURE&f=false Chromosome 18, hps://rarediseases.info.nih.gov/diseases/ Chromosome 18, Growth Hormone Paral Deleon 18q 10866/proximal-chromosome-18q-deleon- Paral Duplicaon Deficiency, Slow syndrome 18q Growth Chromosome 18, hp://www.rarechromo.org/informaon/ Short Stature Proximal Deleon Chromosome%2018/18q%20deleons%20fro 18q m%20%2018q11.2%20to%2018q21.2%20FTN W.pdf Chromosome 18, hps://www.ncbi.nlm.nih.gov/pmc/arcles/ IUGR, Short Trisomy 18 PMC3520824/ Stature Chromosome 18, hps://www.chromosome18.org/ Tetrasomy 18p; Short Stature Trisomy 18p tetrasomy-18p/ Edward's Syndrome Chromosome 18p hp://www.malacards.org/card/ Short Stature Deleon Syndrome chromosome_18p_deleon_syndrome? search=Chromosome+18%2C+18p Chromosome 18p hps://rarediseases.info.nih.gov/diseases/ Short Stature Duplicaon 5323/chromosome-18p-duplicaon

133 Chromosome 18q- hps://rarediseases.org/rare-diseases/ 18q Deleon Growth Delay, Syndrome chromosome-18q-syndrome/ Syndrome; 18q- Pituitary Syndrome; Anonamalies Chromosome 18 Long Arm Deleon Syndrome; Chromosome 18, Monosomy 18Q; deleon(18q) Syndrome; Monosomy 18q Syndrome; Chromosome 18, i18; Chromone 18, intersal Deleon 18q; Chromosome 18, Microdeleon 18q11.2; Chromosome 18, Paral Deleon 18p; Chromosome 18, Paral Deleon 18q Chromosome 19 hp://www.checkorphan.org/diseases/ Chromosome 19- Poor Physical chromosome-19-trisomy-19q Trisomy 19q Development Chromosome 19, hp://www.rarechromo.org/informaon/ Failure to Thrive Deleon 19p13.3 Chromosome%2019/19p13.3%20microdeleo Microdeleon ns%20FTNW.pdf Chromosome 19, hp://www.nature.com/ejhg/journal/v23/ Short Stature Deleon 19p13.3, n12/full/ejhg201551a.html Deleon of MAP2K2/ MEK2 Chromosome 19, hps://www.omim.org/entry/613026 Chromosome Short Stature Deleon 19q12q13.1 19q13.11 Deleon Syndrome, Distal Chromosome 19, hp://www.scielo.br/scielo.php? Overgrowth Deleon/Duplicaon script=sci_arext&pid=S1415-4757201400020 19p13.13 0007 Chromosome 19, hps://www.omim.org/entry/613638? Chromosome 19p13.1 Overgrowth for Intersal search=Chromosome%2019%2C%20intersa 3 duplicaon First few Years Duplicaon 19p l%20duplicaon%2019p&highlight=intersce Syndrome, Included %20intersal%2019%2019p%20chromosoma l%20xix%20duplicaon%20nineteen%20chro mosome Chromosome 19, hps://www.researchgate.net/publicaon/ Microdeleon/ Tall Stature Intersal 45102029_A_novel_microdeleonmicroduplic Microduplicaon Duplicaon 19p aon_syndrome_of_19p1313 Syndrome of 19p13.13

134 Chromosome 19, hp://www.rarechromo.org/informaon/ Short Stature Microduplicaon Chromosome%2019/19p13.2%20microdeleo Terminal 19p ns%20FTNW.pdf Chromosome 19, Chromosome 19- trisomy 19q Short Stature Mosaic Trisomy 19 Chromosome 19, hp://onlinelibrary.wiley.com/doi/10.1111/j. Failure to Thrive Paral Trisomy 19p13 1399-0004.1992.tb03651.x/abstract Chromosome hps://rarediseases.info.nih.gov/diseases/ Pre and post 19q13.11 Deleon 10592/chromosome-19q1311-deleon- Growth Deficiency Syndrome syndrome and Tall Stature Chromosome 1q hps://rarediseases.info.nih.gov/diseases/ Short Stature Duplicaon 10831/chromosome-1q-duplicaon Chromosome 1q21.1 hp://www.malacards.org/card/ Short Stature Deleon Syndrome, chromosome_1q211_deleon_syndrome_135 1.35Mb _mb?search=short+stature Chromosome 1q41- hps://rarediseases.info.nih.gov/diseases/ 1q41-q42 Deleon Short Stature Q42 Deleon 3738/chromosome-1q41-q42-deleon- Syndrome; 1q41-q42 Syndrome syndrome Microdeleon Syndrome; Deleon 1q41-q42; Monosomy 1q41-q4 Chromosome 2, 2p23 hp://onlinelibrary.wiley.com/doi/10.1002/ Taon-Brown-Rahman Tall Stature Microdeleon ajmg.a.37588/full Syndrome Chromosome 2, hps://www.omim.org/entry/613564 Short Stature Deleon 2p12-p11.2 Chromosome 2, hp://www.rarechromo.org/informaon/ Short Stature Deleon 2p16.3 with Chromosome%20%202/2p16.3%20(NRXN1)% NRXN1 Deleons 20deleons%20FTNW.pdf Chromosome 2, hp://jmg.bmj.com/content/27/2/137 Short Stature Deleon 2pter Chromosome 2, hp://www.malacards.org/card/ Chromosome 2q37 Short Stature Deleon 2q37 chromosome_2q37_deleon_syndrome? Deleon Syndrome search=short+stature Chromosome 2, hp://www.rarechromo.org/informaon/ Short Stature Duplicaon 2q21-q33 Chromosome%20%202/2q%20duplicaons%2 0FTNW.pdf Chromosome 2, hps:// Severe Growth Duplicaon 2q3 molecularcytogenecs.biomedcentral.com/ Failure arcles/10.1186/1755-8166-7-41 Chromosome 2, hps://www.ncbi.nlm.nih.gov/pubmed/ Short Stature Duplicaon2q11.1- 26227573 q13.2 Chromosome 2, Chromosome 2, Intersal Deleon Growth Microdeleon 2q31.1 2q(q13q22) Retardaon

135 Chromosome 2, hp://www.scielo.br/scielo.php? Growth Microdeleon script=sci_arext&pid=S1415-4757201400020 Retardaon 2q31.1-q31.2 0007 Chromosome 2, hp://www.rarechromo.org/informaon/ Growth Microdeleon 2q33.1 Chromosome%20%202/2q33.1%20deleons% Retardaon 20and%20other%20deleons%20between%2 02q31%20and%202q33%20FTNP.pdf Chromosome 2, hps://books.google.com/books? Severe Growth Microduplicaon in id=AvIoDwAAQBAJ&pg=PA116&lpg=PA116&d Retardaon 2p16-2p22 q=Chromosome+ +microduplicaon+in+2p16-2p22&source=bl& ots=WFrH4pk8aN&sig=9KB9PpkRT7h04TAj8ch StZN-6dI&hl=en&sa=X&ved=0ahUKEwj_htSf2- 3UAhXJ7yYKHRJnCiIQ6AEIYTAJ#v=onepage&q =Chromosome%20%20microduplicaon%20in %202p16-2p22&f=false Chromosome 2, hps://books.google.com/books? Growth Delay Mosaic Trisomy 2 id=PT9DAAAAQBAJ&pg=PA123&dq=mosaic+tr isomy+2+and+Growth&hl=en&sa=X&ved=0ah UKEwid8uD03O3UAhXCJCYKHa8QB4AQ6AEIIj AA#v=onepage&q=mosaic%20trisomy%202%2 0and%20Growth&f=false Chromosome 2, hps://books.google.com/books? Growth Paral Trisomy 2p id=mdsAGBa8sy8C&pg=PA109&dq=Chromoso Retardaon me+2,+paral+trisomy+2p+and+Growth&hl=e n&sa=X&ved=0ahUKEwiV8ejQ3O3UAhVE2SYK HSZbBP8Q6AEIJjAB#v=onepage&q=Chromoso me%202%2C%20paral%20trisomy%202p%20 and%20Growth&f=false Chromosome 20 ring; hps://rarediseases.org/rare-diseases/ Chromosome 21 Ring Short Stature Ring 20; R20; Ring chromosome-21-ring/ Chromosome 20 Syndrome Chromosome 20, hps://www.nature.com/jhg/journal/v60/n6/ Short Stature Deleon pdf/jhg201522a.pdf?origin=ppub 20q(q13.32-13.33) Chromosome 20, hp://www.biomedsearch.com/nih/New- Growth Deleon 20q13 x 11 assignment-adenosine-deaminase-gene/ Retardaon 3560174.html

136 Chromosome 20, hps://omim.org/entry/601146? Growth/Differentaon Short Stature Duplicaon 20q11.2 search=20q11.2%20duplicaon&highlight=du Factor 5; GDF5; plicaon%2020q112 Carlage-Derived Morphogenec Protein 1; CDMP1; Lipopolysaccharide- Associated Protein 4; LAP4; LPS-Associated Protein 4; Bone Morphogenec Protein 14; BMP14 Chromosome 20, hps://bohring-opitz.org/bosasxl1/other- Bohring-Opitz Growth Microdeleon q11.21 cases-which-are-compared-with-bos/#ASXL2 Syndrome; Intersal Retardaon Chromosome 20q11.21 micro Deleon; Novo Overlapping of Chromosome 20q11.2 Duplicaon; Paral Deleon of ASXL1 Gene; Novo truncaon ASXL3 mutaon or Bainbridge-Ropers Syndrome; De Novo Truncaon Variants in ASXL2; Opitz C Syndrome Chromosome 20, hps://rarediseases.info.nih.gov/diseases/ Trisomy Chromosome Mosaic Trisomy 20 5332/chromosome-20-trisomy 20; Trisomy 20; Trisomy 20 Mosaicism; Mosaic Trisomy 20 Chromosome 20, hp://www.diseasesdatabase.com/ Chromosome 20, Delayed Growth Paral Duplicaon umlsdef.asp?glngUserChoice=32348 Paral Duplicaon 20q 20q Chromosome 20p hp://www.rarechromo.org/informaon/ Growth Delay, SGA Deleons Chromosome%2020/20p%20deleons%20FTN W.pdf Chromosome 21, hp://www.rarechromo.org/informaon/ Chromosome 21, Short Stature Deleon 21q Chromosome%2021/21q%20deleons%20FTN Deleon 21q W.pdf (overview book)

137 Chromosome 21, hps://omim.org/entry/190685? DOWN Syndrome Short Stature Deleon search=trisomy%2021&highlight=trisomy%20 Chromosome Region, 21q22.1q22.3 21 included; DCR, Included; DOWN Syndrome Crical Region, Included; DSCR, Included; Transient Myeloproliferave Disorder OF DOWN Syndrome, Included; Leukemia, Megakaryoblasc, of DOWN Syndrome, Included Chromosome 21, hp://www.sciencedirect.com/science/ Failure to Thrive Intersal Deleon arcle/pii/S0378111912010748 21q(q11-q21.3) Chromosome 21, hp://www.orpha.net/consor/cgi-bin/ 21q Deleon Postnatal Growth Monosomy 21 OC_Exp.php?Lng=GB&Expert=574 Syndrome; 21q- Retardaon Syndrome Paral 21q Monosomy Chromosome 21, Isochromosome 21 Primary is Tetrasomy 21 Leukemia Chromosome 21, Down Syndrome Short Stature Trisomy 21 Chromosome 22, hps://omim.org/entry/611867? Chromosome 22q11.2 Short Stature Deleon 22q11.2 search=DISTAL%20CHROMOSOME%2022q11. Deleon Syndrome, Syndrome 2%20DELETION%20syndrome&highlight=synd Distal; Distal rome%20distal%20syndromic%20deleon%20 Chromosome 22q11.2 chromosomal%2022q112%20chromosome Deleon Syndrome Chromosome 22, hps://books.google.com/books? 22q13 Microdeleon Accelerated Deleon 22q13 id=bonlLHarTFAC&pg=PA325&lpg=PA325&dq= Syndrome; Phelan- Growth Chromosome+17,+deleon+17p13.1- McDermid Syndrome p11.2+AND+STATURE&source=bl&ots=PeO- ygeCk8&sig=XkHCGxT0zaaV-- lKGi1JRFV9rk8&hl=en&sa=X&ved=0ahUKEwjth cO8hefUAhVFNSYKHcQPARYQ6AEITTAH#v=on epage&q=Chromosome%2017%2C%20deleo n%2017p13.1- p11.2%20AND%20STATURE&f=false Chromosome 22, hps://www.ncbi.nlm.nih.gov/books/ Growth Delay Duplicaon 22(pter- NBK105980/ q11) Duplicaon 11(q23-qter) Chromosome 22, hps://ghr.nlm.nih.gov/condion/22q112- DiGeorge Syndrome Short Stature Microduplicaon duplicaon 22q11.2

138 Chromosome 22, hps://www.ncbi.nlm.nih.gov/pmc/arcles/ 22q13.3 Deleon Accelerated Microduplicaon PMC3366702/ Syndrome (Phelan- Growth 22q13 McDermid Syndrome) Chromosome 22, hps://ghr.nlm.nih.gov/condion/22q112- 22q11.2 Deleon Short Stature, Paral Deleon 22q deleon-syndrome Syndrome Kidney Problems Chromosome 22, hp://www.malacards.org/card/trisomy_22? Trisomy 22 IUGR Trisomy 22 search=trisomy+22 Chromosome 2p, hp://www.rarechromo.org/informaon/ Small for Deleon Syndrome Chromosome%20%202/2p%20deleons%20F Gestaonal Age; TNP.pdf Growth Retardaon Chromosome 2q31.1 hps://omim.org/entry/613681? Short Stature and Duplicaon search=Chromosome%202q31.1%20duplicao Limb Growth Syndrome n%20syndrome&highlight=syndrome%20synd Abnormality romic%20chromosomal%20duplicaon%202q 311%20chromosome Chromosome 2q35- hps://www.nature.com/ejhg/journal/v17/ Short Stature q36.2 Deleon n9/pdf/ejhg200918a.pdf?origin=ppub Chromosome 3, hps://rarediseases.info.nih.gov/diseases/37/ Chromosome 3p Slow Growth, Deleon 3p chromosome-3p-deleon Deleon; Deleon 3p; Short Stature Monosomy 3p; 3p Deleon; 3p Monosomy; Paral Monosomy 3p Chromosome 3, hps://www.ncbi.nlm.nih.gov/pubmed/ Chromosome 3 Short Stature Deleon 3p14p12 25908055 Deleon, 3p14.12 Syndrome Chromosome 3, hp://www.ashg.org/2014meeng/abstracts/ Short Stature Deleon 3p22.3p22.2 fulltext/f140120383.htm Chromosome 3, hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Short Stature Deleon 3p25.3 PMC4795044/ Chromosome 3, hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Tall Stature Deleon 3q13.2- PMC3261728/ q13.31 Chromosome 3, hp://onlinelibrary.wiley.com/doi/10.1002/ Precocious Deleon 3q21.1q21.3 ajmg.a.32857/abstract Puberty and Short Stature Chromosome 3, hps://www.ncbi.nlm.nih.gov/pubmed/ Overgrowth Deleon 3q27-qter 19842202 Chromosome 3, hp://www.biomedsearch.com/nih/Primary- Short Stature Deleon 3q28-29 ovarian-Failure-deleons-long/16355815.html Chromosome 3, hp://www.checkorphan.org/diseases/ Chromosome 3 Growth Duplicaon 3p25.3 chromosome-3-duplicaon-syndrome Duplicaon Syndrome Retardaon

139 Chromosome 3, hp://onlinelibrary.wiley.com/doi/10.1111/j. Severe Growth Intersal Deleon 1442-200X.1988.tb02501.x/full Retardaon 3p(p12p14) Chromosome 3, hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Short Stature Intersal Deleon PMC1734860/pdf/v038p00349.pdf 3p22.2-p24.2 Chromosome 3, hp://www.scielo.br/scielo.php? Postnatal Microdeleon script=sci_arext&pid=S1415-4757201400020 Overgrowth 3q13.31 0007 Chromosome 3, see aka De Novo 3q2 Trisomy Short Stature Microdeleon with ins(8 ;3) 3q26.32 Chromosome 3, hps://www.researchgate.net/publicaon/ Microdeleon IUGR Microdeleon 235379175_3q2633-3q272_microdeleon_A_ 3q26.33-3q27.2 3q26.33-3q27.2 new_microdeleon_syndrome Chromosome 3, hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Overgrowth Microduplicaon PMC3261728/ 3q13.31 Chromosome 3, hp://mosaicism.bcchr.ca/specific/ Trisomy 3 Mosaicism Short Stature Mosaic Trisomy 3 trisomy3.htm Chromosome 3, hps://rarediseases.info.nih.gov/diseases/ Chromosome 3p Short Stature Paral Duplicaon 3p 5343/chromosome-3p-duplicaon Duplicaon; Duplicaon 3p; Trisomy 3p; 3p Duplicaon; 3p Trisomy; Paral Trisomy 3p Chromosome 3, hps://rarediseases.org/rare-diseases/ Chromosome 3, Postnatal Growth Paral Duplicaon 3q chromosome-3-trisomy-3q2/ Trisomy 3q2; Retardaon Chromosome 3, Distal 3q2 Duplicaon; Chromosome 3, Distal 3q2 Trisomy; Paral Duplicaon 3q Syndrome; Paral Trisomy 3q Syndrome Chromosome 3, hps://www.hindawi.com/journals/cripe/ Growth Paral Duplicaon 3q 2012/846564/ Retardaon and Deleon 3p Chromosome 3, hps://rarediseases.org/rare-diseases/ Chromosome 3, Distal Growth Delay Trisomy 3q2 chromosome-3-trisomy-3q2/ 3q2 Duplicaon; Chromosome 3, Distal 3q2 Trisomy; Paral Duplicaon 3q Syndrome; Paral Trisomy 3q Syndrome"

140 Chromosome 3p- hps://rarediseases.info.nih.gov/diseases/ Del(3p) Syndrome; Growth Failure Syndrome 3750/chromosome-3p--syndrome Chromosome 3, Monosomy 3p25; Deleon 3p25; Chromosome 3pter- p25 Deleon Syndrome; Telomeric Monosomy 3p; Distal 3p Deleon; 3p- Syndrome; Distal Monosomy 3p; Monosomy 3pte Chromosome 3pter- hps://www.omim.org/entry/613792 3p- Syndrome Low birth Weight, p25 Deleon Growth Syndrome Retardaon Chromosome 4, hps://books.google.com/books? Wolf-Hirschhorn Growth Delay 4p16.3 Microdeleon id=bonlLHarTFAC&pg=PA325&lpg=PA325&dq= Syndrome (WHS) Chromosome+17,+deleon+17p13.1- p11.2+AND+STATURE&source=bl&ots=PeO- ygeCk8&sig=XkHCGxT0zaaV-- lKGi1JRFV9rk8&hl=en&sa=X&ved=0ahUKEwjth cO8hefUAhVFNSYKHcQPARYQ6AEITTAH#v=on epage&q=Chromosome%2017%2C%20deleo n%2017p13.1- p11.2%20AND%20STATURE&f=false Chromosome 4, hps://bmcmedgenet.biomedcentral.com/ Short Stature Duplicaon 4p16.3 arcles/10.1186/s12881-015-0251-5 Chromosome 4, hp://www.sciencedirect.com/science/ Marked Growth Intersal Deleon arcle/pii/S1875957211000404 Retardaon 4p Chromosome 4, hps://rarediseases.org/rare-diseases/ Chromosome 4, Small Stature Intersal Deleon chromosome-4-monosomy-4q/ Monosomy 4q; 4q Chromosome 4 Long Arm Deleon Chromosome 4q- Syndrome" Chromosome 4, hp://www.scielo.br/scielo.php? Growth Microdeleon 4q21 script=sci_arext&pid=S1415-4757201400020 Retardaon 0007

141 Chromosome 4, hps://rarediseases.org/rare-diseases/ 4q Deleon Short Stature Monosomy Distal 4q chromosome-4-monosomy-distal-4q/ Syndrome, Paral; Chromosome 4, 4q Terminal Deleon Syndrome; Chromosome 4, Paral Monosomy 4q Del(4q) Syndrome, Paral Distal 4q Monosomy; Distal 4q- Syndrome Chromosome 4, hp://mosaicism.bcchr.ca/specific/ Trisomy 4 Mosaicism; IUGR Mosaic Trisomy 4 trisomy4.htm Chromosome 4, Paral Deleon 4p; Chromosome 4, Proximal Deleon 4q; Chromosome 4, Terminal Deleon 4q; Chromosome 4, Triplicaon 4q32.1- q32.2 Chromosome 4, hps://rarediseases.org/rare-diseases/ Chromosome 4, Growth Deficiency Trisomy 4p chromosome-4-trisomy-4p/ Paral Trisomy 4p; Dup(4p) Syndrome; Duplicaon 4p Syndrome Chromosome 4p hps://rarediseases.info.nih.gov/diseases/ Deleon 4p; Short Stature Deleon 6090/chromosome-4p-deleon Monosomy 4p; 4p Deleon; 4p Monosomy; Paral Monosomy 4p Chromosome 4p hp://www.malacards.org/card/ Short Stature Duplicaon chromosome_4p_duplicaon? search=Chromosome+4p+duplicaon Chromosome 4p16.3 hps://deepblue.lib.umich.edu/bitstream/ Short Stature Duplicaon handle/2027.42/83462/33916_p.pdf? sequence=1 Chromosome 4pter- hp://www.rarechromo.org/informaon/ Tall Stature p16.3 Duplicaon Chromosome%20%204/4p%20Duplicaons%2 0FTNW.pdf Chromosome 4q hps://rarediseases.info.nih.gov/diseases/ Deleon 4q; Short Stature Deleon 1340/chromosome-4q-deleon Monosomy 4q; 4q Deleon; 4q Monosomy; Paral Monosomy 4q Chromosome 5 hp://www.nature.com/ejhg/journal/v13/n4/ Cri Du Chat Syndrome Short Stature Deleon, full/5201345a.html (Most of this Chrom is 5p15.2-5p15.3 for this Issue)

142 Chromosome 5, 5q35 hps://www.ncbi.nlm.nih.gov/pubmed/ Hunter-McAlpine Short Stature Microduplicaon 15617549 Syndrome; Distal 5q Duplicaon Syndrome Chromosome 5, hps://ww4.aievoluon.com/acm1501/ De Novo Combined 5q Short Stature Distal Duplicaon 5q index.cfm?do=abs.viewAbs&abs=1295 Duplicaon-9p Deleon Syndrome Chromosome 5, hps://link.springer.com/arcle/10.1007/ Short Stature Distal Duplicaon 5q BF00291766 ter Chromosome 5, hps://link.springer.com/arcle/10.1007/ Growth Distal Duplicaon BF00291766 Retardaon 5q31 (32/33) Chromosome 5, hp://www.malacards.org/card/ Chromosome 5p13 Du SGA Duplicaon 5p13 chromosome_5p13_duplicaon_syndrome? plicaon Syndrome; search=Chromosome+5%2C+duplicaon+5p1 5p13 Microduplicaon 3 Syndrome; Trisomy 5p13 Chromosome 5, hps://omim.org/entry/613443 Chromosome 5q14.3 Short Stature Microdeleon 5q14.3 Deleon Syndrome, Proximal, Included; Mental Retardaon, Autosomal Dominant 20; MRD20 Chromosome 5, hp://www.socialstyrelsen.se/ 5p Syndrome; Mosaic Stunted Growth Mosaic Trisomy 5 ovanligadiagnoser/trisomi5p- Trisomy of Aer Birth syndromet#anchor_5 Chromosome 5 Chromosome 5, hp://www.orpha.net/consor/cgi-bin/ Cri Du Chat Syndrome; IUGR, Short Paral Deleon 5p OC_Exp.php?Expert=281 Paral Monosomy of Stature Chromosome 5; 5p Monosomy; 5p Paral Monosomy Syndrome Chromosome 5, hps://www.omim.org/entry/153550 Short Stature Subtelomeric Deleon 5q Chromosome 5p hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Growth Deficiency Deleons PMC4736720/

143 Chromosome 5p hp://www.malacards.org/card/ Trisomy 5p; Short Stature Duplicaon chromosome_5p_duplicaon? Chromosome 5, search=chromosom+5p+duplicaon Trisomy 5p, Complete (5p11-ter), included; Chromosome 5, Trisomy 5p, Paral, included; dup(5p) Syndrome; Duplicaon 5p Syndrome; Trisomy 5p; Supernumerary Marker Chromosome 5p r(5) Chromosome 5q12 hp://www.malacards.org/card/ Pde4d Growth Delay and Deleon Syndrome chromosome_5q12_deleon_syndrome? Haploinsufficiency DisproporonateT search=CHROMOSOME+5q12+DELETION+syn Syndrome all Stature drome Chromosome 6 Ring hps://rarediseases.org/rare-diseases/ r6; Ring 6; Ring 6, Growth chromosome-6-ring/ Chromosome Retardaon Chromosome 6, 6p hp://www.rarechromo.org/informaon/ SGA Duplicaon Chromosome%20%206/6p%20duplicaon%20 FTNW.pdf Chromosome 6, hp://www.rarechromo.org/informaon/ Growth Deleonay Deleon 6q11-q16 Chromosome%20%206/6q%20deleons%206 q11%20to%206q16%20FTNW.pdf Chromosome 6, hps://www.ncbi.nlm.nih.gov/pubmed/ Growth Hormone Deleon 6q16 24038875 Deficiency Chromosome 6, hps:// Short Stature Deleon 6q27 molecularcytogenecs.biomedcentral.com/ arcles/10.1186/s13039-014-0078-3 Chromosome 6, hp://www.rarechromo.org/informaon/ 6q Deleons from Short Stature Intersal Deleon Chromosome%20%206/6q%20deleons%20fr 6q26 and 6q27 6q om%206q26%20and%206q27%20FTNW.pdf (overview book) Chromosome 6, hp://citeseerx.ist.psu.edu/viewdoc/ Short Stature Microdeleon 6p25 download;jsessionid=DBCEA7976EE66B481E3 747227100A3E9? doi=10.1.1.539.9951&rep=rep1&type=pdf Chromosome 6, hps://www.ncbi.nlm.nih.gov/pubmed/ Short Stature Terminal Deleon 6q 18947005 Chromosome 6, hps:// Intersal 6q21q23 Short Stature terminal Deleon molecularcytogenecs.biomedcentral.com/ Duplicaon 6q21-qter arcles/10.1186/s13039-016-0253-9 Chromosome 6p hps://www.ncbi.nlm.nih.gov/pubmed/ Paral Monosomy 6p Short Stature, Deleon 9298749 Failure to Thrive

144 Chromosome 6q11- hps://www.omim.org/entry/613544 Short Stature q14 Deleon Syndrome Chromosome hps://www.omim.org/entry/612863 IUGR 6q24Q25 Deleon Syndrome Chromosome 6q24- hps://www.omim.org/entry/612863 IUGR q25 Deleon Syndrome Chromosome 7 Ring hps://www.ncbi.nlm.nih.gov/medgen/? Growth Failure Syndrome term=Chromosome+7%2C+deleon+7p15.3- p21.2 Chromosome 7, hps://www.ncbi.nlm.nih.gov/pmc/arcles/ HOXA Genes cluster at Short Stature Deleon 7p15.2- PMC4395968/ 7p15.2p14.3 p14.3 Chromosome 7, hps://rarediseases.org/rare-diseases/ Chromosome 7, Growth Deficiency Deleon 7p15.3- chromosome-7-paral-monosomy-7p/ Paral Monosomy 7p; p21.2 Chromosome 7, 7p Deleon Syndrome, Paral; Chromosome 7, Paral Deleon of Short Arm; Deleon(7p) Syndrome, Paral; Intersal 7p Monosomy, included; Paral 7p Monosomy; Terminal 7p Monosomy, included; Terminal 7p Monosomy, Included Chromosome 7, hps://www.omim.org/entry/613729 Chromosome 7q11.23 Severe Deleon 7q11.21- Deleon Syndrome, Developmental q11.23 Distal, 1.2-MB / aka Delay Distal Chromosome 7q11.23 Deleon Syndrome Chromosome 7, hp://www.biomedsearch.com/nih/ Zellweger Syndrome Enzyme Deficiency Deleon 7q11.22- Zellweger-syndrome-microdeleon-proximal- q11.23 long/3169748.html Chromosome 7, hp://www.malacards.org/card/ Distal Monosomy Short Stature Deleon 7q36 distal_monosomy_7q36?search=short+stature 7q36

145 Chromosome 7, hps://rarediseases.org/rare-diseases/ Chromosome 7, Growth Deficiency Intersal Deleon chromosome-7-paral-monosomy-7p/ Paral Monosomy 7p 7p aka Chromosome 7, 7p Deleon Syndrome, Paral; Chromosome 7, Paral Deleon of Short Arm; deleon(7p) Syndrome, Paral; Intersal 7p Monosomy, Included; Paral 7p Monosomy; Terminal 7p Monosomy, Included; Terminal 7p Monosomy, Included Chromosome 7, hp://www.rarechromo.org/informaon/ Slow Growth, Intersal Deleon Chromosome%20%207/7q%20deleons%20pr Short Stature 7q oximal%20intersal%20FTNW.pdf Chromosome 7, hp://www.chr7.org/clinical.php? Failure to Thrive inv(7)(q21.3q35) searchtag=conducve Chromosome 7, hp://www.scielo.br/scielo.php? Overgrowth Microdeleon script=sci_arext&pid=S1415-4757201400020 7q22.2-q22.3 0007 Chromosome 7, hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Proporonate Microduplicaon PMC4906420/ Short Stature 7p22 Chromosome 7, hps:// Short Stature Microduplicaon molecularcytogenecs.biomedcentral.com/ 7q21.2-7q31.31 arcles/10.1186/1755-8166-4-28 Chromosome 7, hp://mosaicism.bcchr.ca/specific/ Short Stature Mosaic Trisomy 7 trisomy7.htm Chromosome 7p13.3, hp://www.malacards.org/card/ Chromosome 17p13.3 Tall Stature Centromeric, chromosome_17p133_centromeric_duplicao Duplicaon Duplicaon n_syndrome Syndrome; 17p13.3 Syndrome Microduplicaon Syndrome Chromosome 7q hp://www.rarechromo.org/informaon/ Chromosome 7, Very Short Stature Deleons Between Chromosome%20%207/7q%20deleons%20b Microduplicaon 7q21 & 7q32 etween%207q21%20and%207q32%20FTNP.pd 7q21-7q32 f

146 Chromosome 8 hps://books.google.com/books? Langer-Giedion Short Stature Deleon q24 De id=bonlLHarTFAC&pg=PA325&lpg=PA325&dq= Syndrome; LGS; Novo Chromosome+17,+deleon+17p13.1- Tricho-Rhino- p11.2+AND+STATURE&source=bl&ots=PeO- Phalangeal Syndrome ygeCk8&sig=XkHCGxT0zaaV-- Type; TRPSII lKGi1JRFV9rk8&hl=en&sa=X&ved=0ahUKEwjth cO8hefUAhVFNSYKHcQPARYQ6AEITTAH#v=on epage&q=Chromosome%2017%2C%20deleo n%2017p13.1- p11.2%20AND%20STATURE&f=false Chromosome 8, hp://www.malacards.org/card/ Chromosome 8q24.3 Short Stature 8q24.3 Deleon verheij_syndrome Deleon Syndrome; Syndrome Verheij Syndrome Chromosome 8, hps://rarediseases.org/rare-diseases/ Deleon 8q; IUGR Deleon 8q chromosome-8-monosomy-8p/ Monosomy 8q; 8q Deleon; 8q Monosomy; Paral Monosomy 8; 8p- Syndrome, Paral; Chromosome 8, 8p Deleon Syndrome, Paral; Chromosome 8, Paral Deleon of Short Arm; Chromosome 8, Paral Monosomy 8p; Del(8p) Syndrome, Paral; Distal 8p Monosomy; Paral 8p Monosomy; Terminal 8p- Syndrome (8p21 to 8p23-pter), Included Chromosome 8, hps://www.ncbi.nlm.nih.gov/pubmed/ Short Stature Deleon 8q11-q13 15672384 Chromosome 8, hp://www.scielo.br/scielo.php? Growth Deleon 8q22.2q22.3 script=sci_arext&pid=S1415-4757201400020 Retardaon 0007 Chromosome 8, hp://www.chromodisorder.org/Display.aspx? Trisomy 8p Short Stature Duplicaon 8p ID=57 Chromosome 8, hp://jmg.bmj.com/content/42/8/609 Short Stature Duplicaon 8p23.1 Chromosome 8, hps://bmcmedgenet.biomedcentral.com/ Chromosome 8q21.11 Growth Microdeleon arcles/10.1186/s12881-015-0164-3 Deleon Syndrome Retardaon 8q21.11 Chromosome 8, hp://onlinelibrary.wiley.com/doi/10.1002/ Mosaic Tetrasomy 8q Short Stature Mosaic Tetrasomy 8q (SICI)1096-8628(20000501)92:1%3C69::AID- AJMG12%3E3.0.CO;2-O/abstract

147 Chromosome 8, hp://www.healthline.com/health/trisomy-8- Trisomy 8 Mosaicism Extreme Stature- Mosaic Trisomy 8 mosaicism-syndrome#symptoms3 Syndrome; T8mS Either too Short or too Tall Chromosome 8, hps://www.hindawi.com/journals/crid/ Short Stature Trisomy 2014/730375/ Chromosome 8p23.1 hps://rarediseases.info.nih.gov/diseases/ IUGR Deleon 3769/chromosome-8p231-deleon Chromosome 8q22.1 hp://www.malacards.org/card/ Short Stature Duplicaon chromosome_8q221_duplicaon_syndrome? Syndrome search=short+stature Chromosome 8q24.3 hps://rarediseases.info.nih.gov/diseases/ Slow Growth Deleon Syndrome 12814/chromosome-8q243-deleon- syndrome Chromosome 9, 9p13 hps://www.ncbi.nlm.nih.gov/pmc/arcles/ 9p13.3-p13.1 Short Stature PMC3983590/ Intersal Deleon Chromosome 9, hps://ghr.nlm.nih.gov/condion/9q223- Overgrowth Microdeleon 9q22.3 microdeleon Chromosome 9, hps://rarediseases.org/rare-diseases/ Paral Monosomy 9p; Short Stature Paral Deleon 9p chromosome-9-paral-monosomy-9p/ 9p Paral Monosomy; 9p- Syndrome, Paral; Chromosome 9, Paral Monosomy 9p22; Chromosome 9, Paral Monosomy 9p22-pter; Del(9p) Syndrome, Paral; Deleon 9p Syndrome, Paral; Distal 9p- Syndrome; Distal Monosomy 9p; Monosomy 9p, Paral; Paral Deleon of Short Arm of Chromosome 9 Chromosome 9, hps://www.karger.com/Arcle/Pdf/321647 Short Stature Paral Deleon 9p, Duplicaon 5q Chromosome 9, hps://www.ncbi.nlm.nih.gov/pubmed/ Chromosome 9q Short Stature Paral Deleon 9q 20158889 Deleon; Deleon 9q; Monosomy 9q; 9q Deleon; 9q Monosomy; Paral Monosomy 9q

148 Chromosome 9, hps://rarediseases.org/rare-diseases/ Chromosome 9, Short Stature Paral Duplicaon 9p chromosome-9-trisomy-9p-mulple-variants/ Trisomy 9p; Chromosome 9, Complete Trisomy 9P; Chromosome 9, Paral Trisomy 9P, included; Chromosome 9, Trisomy 9pter-q11-13, Included; Chromosome 9, Trisomy 9pter-q22-32, Included; Dup(9p) Syndrome; Duplicaon 9p Syndrome; Rethore Syndrome (Obsolete); Trisomy 9P Syndrome (Paral), Included Chromosome 9, hps://www.karger.com/Arcle/Pdf/83909 Tetrasomy 9p IUGR Tetrasomy 9p Syndrome Chromosome 9, hps://link.springer.com/referenceworkentry/ Short Stature, Trisomy 9 10.1007%2F978-1-4614-1037-9_226#page-1 Growth Retardaon Chromosome X, hps://www.omim.org/clinicalSynopsis/ Chromosome Xp11.3 Short Stature Deleon Xp11.4- 613544 Deleon Syndrome p11.3 Chromosome X, hps://www.omim.org/entry/300679? Chromosome Xp21 Poor Growth Deleon Xp21 search=Chromosome%20X%2C%20deleon%2 Deleon Syndrome; 0Xp21&highlight=x%20xp21%20chromosome Complex Glycerol %20deleon%20chromosomal Kinase Deficiency Chromosome X, hps://www.ncbi.nlm.nih.gov/pubmed/ Short Stature Deleon Xp22 27751420 Chromosome X, hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Short Stature Deleon Xp22.31- PMC3080608/ Xp22.12 Chromosome X, hps://www.omim.org/entry/300582 Short Stature, Idiopathic Short Deleon Xp22.33 Idiopathic, X-Linked; Stature, SHOX ISS Chromosome X, hps://www.ncbi.nlm.nih.gov/pubmed/ Familial Xp22.33- Short Stature Deleon Xp22.33- 22581654 Xp22.12 Deleon Xp22.12

149 Chromosome X, hps://rarediseases.info.nih.gov/diseases/ Chromosome Xq Short Stature Distal Duplicaon Xp 5369/chromosome-xq-duplicaon Duplicaon; Duplicaon Xq; Trisomy Xq; Xq Duplicaon; Xq Trisomy; Paral Trisomy Xq Chromosome X, hps://rarediseases.info.nih.gov/diseases/ Distal Xp Duplicaon Short Stature Duplicaon Xp 5369/chromosome-xq-duplicaon Duplicaon Xq; Trisomy Xq; Xq Duplicaon; Xq Trisomy; Paral Trisomy Xq Chromosome X, hp://docslide.net/documents/paral- Short Stature Duplicaon Xp11.23- xp1123p114-duplicaon-with-random-x- p11.4 inacvaon-clinical-report.html Chromosome X, hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Distal Xp Duplicaon Short Stature Duplicaon Xp22.11- PMC1050733/ p22.32 Chromosome X, hp://www.academia.edu/ Duplicaon in Chromo Short Stature Duplicaon 17345363/9_Mb_familial_duplicaon_in_chro some band Xp22.2– Xp22.2-22.13 mosome_band_Xp22.2_22.13_Associated_wit 22.13 h_mental_retardaon_hypotonia_and_Develo pmental_delay_scoliosis_cardiovascular_probl ems_and_mild_dysmorphic_facial_features Chromosome X, hps://rarediseases.info.nih.gov/diseases/ Chromosome Xq Failure to Thrive, Duplicaon Xq 5369/chromosome-xq-duplicaon Duplicaon; Short Stature Duplicaon Xq; Trisomy Xq; Xq Duplicaon; Xq Trisomy; Paral Trisomy Xq Chromosome X, hp://www.ashg.org/2014meeng/abstracts/ Chromosome Xq27.3- Short Stature Duplicaon fulltext/f140121033.htm q28 Duplicaon Xq27.3q28 Syndrome Chromosome X, hp://www.malacards.org/card/ Chromosome Xq28 Du Short Stature Duplicaon Xq28 chromosome_xq28_duplicaon_syndrome? plicaon Syndrome search=CHROMOSOME+Xq28+DUPLICATION+s yndrome

150 Chromosome X, hps://omim.org/entry/300624? Fragile X Syndrome Short Stature fraXq27 search=Chromosome%20X%2C%20fraXq28&hi aka Fragile X Mental ghlight=x%20chromosomal%20chromosome% Retardaon 20fraxq28 Syndrome; Mental Retardaon, X-Linked, Associated with marXq28; X-Linked Mental Retardaon and Macroorchidism; Marker X Syndrome; Marn-Bell Syndrome Chromosome X, hp://onlinelibrary.wiley.com/doi/10.1111/j. Short Stature Microduplicaon 1469-8749.2010.03909.x/full Xp11.22-p11.23 Chromosome X, hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Short Stature Microduplicaon PMC3080608/ Xp22.31 Chromosome X, hps://www.omim.org/entry/300942 Chromosome Xq26.3 Excessive Growth Microduplicaon Duplicaon Xq26.3 Syndrome; X-Linked Acrogigansm; XLAG Chromosome X, hp://www.rarechromo.org/informaon/ Are Very Short Xp11.22 Chromosome_X/ Microduplicaonlica Xp11.2%20duplicaons%20FTNW.pdf on Syndrome Chromosome hps://www.omim.org/entry/300801 Precocious Xp11.23-p11.22 Puberty Duplicaon Syndrome Chromosome Xp11.3 hps://www.omim.org/entry/300578? Mental Retardaon, X- Short Stature Deleon Syndrome search=Chromosome%20Xp11.3%20deleon Linked, with Reinis %20syndrome&highlight=syndrome%20syndr Pigmentosa omic%20xp11%20deleon%20chromosomal% 20xp113%20chromosome Chromosome Xq26.3 hps://www.ncbi.nlm.nih.gov/medgen/ Growth Duplicaon 856021 Abnormality Syndrome Chromosome Xq26.3 hps://www.omim.org/entry/300942? Excessive Growth, Duplicaonlicaon search=Chromosome%20Xq26.3%20duplicao Hypersecreon of Syndrome nlicaon%20syndrome&highlight=xq263%20s GH from the yndrome%20syndromic%20duplicaonlicaon Pituitary %20chromosomal%20xq26%20chromosome Chromosome hps://www.omim.org/entry/300869 Short Stature Xq27.3Q28 Duplicaonlicaon Syndrome

151 Chromosome Xq28 hps://rarediseases.info.nih.gov/diseases/ X Chromosome, Failure to Thrive Deleon Syndrome 3776/chromosome-xq28-deleon-syndrome Monosomy Xq28; Xq28 Deleon Syndrome Chronic Congenital hps://rarediseases.org/rare-diseases/ chronic Congenital Short Stature idiopathic hereditary-hyperphosphatasia/ idiopathic hyperphosphatasemi hyperphosphatasemia a ; Familial idiopathic hyperphosphatasia; Familial osteoectasia; hyperostosis corcalis deformans juvenilis; juvenile Paget's Disease Chronic Fague hp://www.myalgia.com/ Chronic Fague Growth Deleonay Syndrome Growth_hormone_deficiency_in_fib.htm Syndrome Chronic Gra Versus hp://www.bloodjournal.org/content/ Chronic Gra Versus Growth Deleonay Host Disease bloodjournal/97/5/1196.full.pdf?sso- Host Disease checked=true Chronic idiopathic hps://www.ncbi.nlm.nih.gov/pubmed/ juvenile Paget Disease Short Stature, hyperphosphatasemi 8361732 Precocious a Puberty Chronic Infanle hps://rarediseases.info.nih.gov/diseases/ Chronic Infanle Growth Deleonay Neurological 1356/chronic-infanle-neurological- Neurological Cutaneous Arcular cutaneous-arcular-syndrome Cutaneous Arcular Syndrome Syndrome Chronic Kideney hps://www.uptodate.com/contents/ Chronic Kideney Growth Deleonay Disease pathogenesis-evaluaon-and-diagnosis-of- Disease Growth-impairment-in-children-with-chronic- kidney-disease?source=see_link Chronic hps://www.ncbi.nlm.nih.gov/pubmed/ Chronic GHD Associated Mucocutaneous 22363878 Mucocutaneous Candidiasis Candidiasis Chudley Rozdilsky hps://rarediseases.info.nih.gov/diseases/ Chudley Rozdilsky Short Stature Syndrome 1358/chudley-rozdilsky-syndrome Syndrome Chylomicron hps://rarediseases.info.nih.gov/diseases/ Chylomicron retenon Failure to Thrive, retenon Disease 9683/chylomicron-retenon-disease Disease Growth Delay Ciliary dyskinesia, hps://www.omim.org/entry/612649 Ciliary dyskinesia, Short Stature Primary, 11 Primary, 11 Ciliary dyskinesia, hp://familydiagnosis.com/diseases/ciliary- Primary ciliary Growth Primary, 12 dyskinesia-primary-type-12/symptoms.htm dyskinesia (PCD Abnormality Ciliary Dyskinesia, hp://www.malacards.org/card/ IUGR Primary, 31 ciliary_dyskinesia_primary_31 Circumferenal Skin hps://www.ncbi.nlm.nih.gov/pubmed/ Kunze Type (CSC-KT) Short Stature Creases, Kunze Type 26637975

152 Cirrhosis, Cryptogenic hp://neoreviews.aappublicaons.org/ Growth Failure content/2/9/e211? sso=1&sso_redirect_count=1&nfstatus=401& noken=00000000-0000-0000-0000-0000000 00000&nfstatusdescripon=ERROR%3a+No+lo cal+token Citrin Deficiency hps://rarediseases.info.nih.gov/diseases/ Neonatal Intrahepac Growth 10214/neonatal-intrahepac-cholestasis- Cholestasis Caused by Retardaon caused-by-citrin-deficiency Citrin Deficiency Citrulline Transport hps://rarediseases.info.nih.gov/diseases/ Growth Deleonay Defect 9949/citrulline-transport-defect CK Syndrome hp://nectarmutaon.org/main/search/ Short Stature disease/CK%20syndrome Clark-Baraitser hps://rarediseases.info.nih.gov/diseases/ Tall Stature Syndrome 9994/clark-baraitser-syndrome , hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Symptom of Ehlers- Short Stature Pseudarthrosis of, PMC4799365/ Danlos; Awadi/Ras- Congenital Rothschild; Kabuki and Prader-Willi Clayton-Smith- extras.springer.com/2008/978-88-470-5624-4/ IUGR Donnai Syndrome Docs/Profili/5730.pdf Clear Cell hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Slow Growth Chondrosarcoma PMC4900123/ Cle Lip/palate hps://www.ncbi.nlm.nih.gov/pubmed/ Short Stature 211214 Cle Lip/palate with hps://www.omim.org/entry/216100 Orocraniodigital Short Stature Abnormal Thumbs Syndrome; Jubert- and Microcephaly Hayward Syndrome; JHS Cle Lip-Palate, hps://www.ncbi.nlm.nih.gov/pubmed/ Hay-Wells Syndrome Short Stature Ectodermal Dysplasia 19676059 Syndrome Cle Lip-Palate, hp://parjournal.net/arcle/view/1220 Ectrodactyly - Short Stature Ectrodactyly Ectodermal Dysplasia - Cle Lip/Palate Syndrome Cle Lip-Palate, hps://www.omim.org/entry/268300? ROBERTS Syndrome; Short Stature Hypertelorism, search=Cle%20lip- RBS prominent eyes palate%2C%20hypertelorism%2C%20promine nt%20eyes&highlight=palate%20eye%20hyper telorism%20lip%20cle%20lippalate%20promi nent

153 Cle Lip-Palate, hps://books.google.com/books? Short Stature Oigodona, id=mSUnOoCvQWAC&pg=PA921&lpg=PA921& Syndactyly, Pili Tor dq=Cle+lip-palate,+oligodona,+syndactyly, +pili+tor+AND+STATURE&source=bl&ots=dr4 lWgbHdf&sig=siZbez3RSo0iu5CrWPAYw8UatP U&hl=en&sa=X&ved=0ahUKEwif8b7Lp- bUAhWQZiYKHZDuB6kQ6AEIKDAD#v=onepag e&q=Cle%20lip- palate%2C%20oligodona%2C%20syndactyly %2C%20pili%20tor%20AND%20STATURE&f=f alse Cle Palate Short hp://www.malacards.org/card/ Mathieu-De Broca- Short Stature Stature Vertebral cle_palate_short_stature_vertebral_anomali Bony Syndrome 48 Anomalies es? search=Cle+Palate+Short+Stature+Vertebral+ Anomalies Cle Palate, hps://ghr.nlm.nih.gov/condion/myhre- Short Stature Camptodactyly, syndrome Deafness Cle Palate, hp://disorders.eyes.arizona.edu/category/ Slow Growth, Psychomotor clinical-features/psychomotor-retardaon Short Stature Retardaon, Disncve Facies, KDM1A Mutaons Cleing, Coloboma of hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Short Stature Choroid, Mental PMC1048959/pdf/jmedgene00116-0048.pdf Retardaon Cle-Limb-Heart hps://rarediseases.info.nih.gov/diseases/ Verloove Vanhorick- Limb Malformaon 5482/verloove-vanhorick-brubakk-syndrome Brubakk Syndrome, Undergrowth, Syndrome CLH Syndrome Growth Abnormality Cleidocranial hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Severe Short Dysplasia PMC3472580/ Stature Cleidocranial hps://rarediseases.info.nih.gov/diseases/ Autosomal Recesive Severe Short Dysplasia Recesive 10623/cleidocranial-dysplasia-recessive-form form of Cleidocranial Stature Form Dysostosis Cleidorhizomelic hp://www.orpha.net/consor/cgi-bin/ Cleidorhizomelic Rhizomelic Dysplasia OC_Exp.php?lng=EN&Expert=1453 Syndrome; Rhizomelic Shortness with Shortness with Clavicular Defect Clavicular Defect; Cleidorhizomelic Dysplasia Clouston Syndrome hps://www.nfed.org/learn/types/clouston- Mild Short Stature syndrome/

154 Clove Syndrome, hp://www.malacards.org/card/ Congenital Overgrowth, Somac clove_syndrome_somac? Lipomatous Lower Limb search=short+stature Overgrowth, Vascular Asymmetry Malformaons, and Epidermal Nevi; Cloves Syndrome Cloverleaf Skull hp://www.kplctv.com/story/18161631/ Cloverleaf Skull- Short Stature Syndrome faces-of-rare-disease-cloverleaf-syndrome Micromelic Bone Dysplasia Syndrome ; Thanatophoric Dwarfism Type 2; Thanatophoric Dwarfism-Cloverleaf Skull Syndrome Clubfoot hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Mild Short Stature PMC2896772/ COACH Syndrome hps://rarediseases.info.nih.gov/diseases/ Joubert Syndrome Short Stature 1410/coach-syndrome Related COATS Syndrome hps://books.google.com/books? Short Stature id=HDIa0tyllqgC&pg=PA184&lpg=PA184&dq= Coats+Plus+syndrome+and+stature&source=b l&ots=1qTAAsLeAs&sig=n0LqBJwt9N2fYBc9Z9 nMSopZOtY&hl=en&sa=X&ved=0ahUKEwiNno 3D5vLTAhXJwiYKHRUsD-4Q6AEINDAE#v=onep age&q=Coats%20Plus%20syndrome%20and% 20stature&f=false Cockayne Syndrome hps://rarediseases.org/rare-diseases/ CS; Deafness- Short Stature cockayne-syndrome/ Dwarfism-Renal Atrophy; Dwarfism with Renal Atrophy and Deafness; Neill- Dingwall Syndrome; Progeroid Nanism Cockayne Syndrome , hps://rarediseases.info.nih.gov/diseases/ Cockayne Syndrome Short Stature Type I 1415/cockayne-syndrome-type-i Type A; Cockayne Syndrome classical; Cockayne Syndrome classic form Cockayne Syndrome, hps://rarediseases.info.nih.gov/diseases/ Cockayne Syndrome, Short Stature Type II 1420/cockayne-syndrome-type-ii Type B Cockayne Syndrome, hps://rarediseases.info.nih.gov/diseases/ Cockayne Syndrome Extreme Short Type III 1415/cockayne-syndrome-type-i Type C Stature CODAS Syndrome hps://www.omim.org/entry/600373 Cerebral, Ocular, Short Stature Dental, Auricular, and Skeletal Anomalies Syndrome

155 Coffin-Lowry hps://www.omim.org/entry/303600? CLS deleonayed Bone Syndrome search=coffin- Age, Small Stature lowry%20syndrome&highlight=syndromic%20 coffinlowry%20lowry%20syndrome%20coffin Coffin-Siris Syndrome hps://www.omim.org/entry/135900? COFFIN-SIRIS Short Stature search=Coffin- Syndrome 1; CSS1; Siris%20syndrome&highlight=syndromic%20si CSS; FIFTH DIGIT ri%20coffin%20coffinsiri%20syndrome Syndrome; MENTAL Retardaon, Autosomal Dominant 12; MRD12 Coffin-Siris hps://www.nature.com/arcles/ Growth Deficiency Syndrome, SOX11 ncomms5011 Mutaons Coffin-Siris hps://www.omim.org/entry/614607? CSS2; Mental Growth Deficiency Syndrome, Type II search=Coffin-Siris%20syndromeCOFFIN- Retardaon, SIRIS%20syndrome%202&highlight=syndrome Autosomal Dominant %20syndromic%20siri%20syndromecoffinsiri% 14; MRD14 202%20syndromecoffin%20coffin%20coffinsiri Coffin-Siris hps://www.omim.org/entry/614608? CSS3; Mental Growth Deficiency Syndrome, Type III search=Coffin-Siris%20syndromeCOFFIN- Retardaon, SIRIS%20syndrome%203&highlight=syndrome Autosomal Dominant %20syndromic%20siri%20syndromecoffinsiri% 15; MRD15 203%20syndromecoffin%20coffin%20coffinsiri Coffin-Siris hps://www.omim.org/entry/614609? CSS4; Mental Growth Deficiency Syndrome, Type IV search=Coffin-Siris%20syndromeCOFFIN- Retardaon, SIRIS%20syndrome%204&highlight=syndrome Autosomal Dominant %20syndromic%20siri%20syndromecoffinsiri% 16; MRD16 204%20syndromecoffin%20coffin%20coffinsiri Coffin-Siris hps://www.omim.org/entry/616938? CSS5 Growth Deficiency Syndrome, Type V search=Coffin-Siris%20syndromeCOFFIN- SIRIS%20syndrome%205&highlight=syndrome %20syndromic%20siri%20syndromecoffinsiri% 205%20syndromecoffin%20coffin%20coffinsiri Cohen Syndrome hp://onlinelibrary.wiley.com/doi/10.1002/ Precocious ajmg.1320580112/abstract Puberty, Delayed Puberty Cohen-Sco-Smith hp://www.jpeds.com/arcle/ Failure to Thrive Syndrome S0022-3476(71)80269-X/pdf Cole-Carpenter hps://rarediseases.info.nih.gov/diseases/ [IUGR] Damage to Syndrome 1 1425/cole-carpenter-syndrome Bones causes Growth Issues Cole-Carpenter hps://www.omim.org/entry/616294 Short Stature Syndrome 2 Colis hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Delayed Puberty, PMC1773272/ Short Stature

156 hp://www.nature.com/gim/journal/v12/n6/ Short Stature full/gim201054a.html Collagenopathy, hps://bmcmedgenet.biomedcentral.com/ Types 2 and 11 (Same arcles/10.1186/s12881-016-0357-4 Issues Different Targets) Coloboma of Macula hp://www.malacards.org/card/ Slow Bone Growth with Type B coloboma_of_macula_with_type_b_brachyda and Deformies Brachydactyly ctyly Coloboma, Obesity, hps://www.ncbi.nlm.nih.gov/pubmed/ Coloboma-Obesity- Short Stature Hypogenitalism, 17050282 Hypogenitalism- Mental Retardaon Mental Retardaon Sy ndrome Coloboma, hp://www.cell.com/ajhg/fulltext/ Short Stature Osteopetrosis, S0002-9297(16)30482-7 Microphthalmia, Microcephaly, Albinism, Deafness Colobomata, hps://www.omim.org/entry/601186 Microphthalmia, Short Stature Unilobar Lung, Heart Syndromic 9; Defect MCOPS9; Anophthalmia, Clinical, with mild Facial Dysmorphism and Variable Malformaons of the lung, Heart, and Diaphragm; Anophthalmia/ Microphalmia and Pulmonary Hypoplasia; Spear Syndrome; Mahew- Wood Syndrome; Pulmonary Agenesis, Microphthalmia, and Diaphragmac Defect; PMD Colobomatous hps://www.omim.org/entry/300915 Microphthalmia, Short Stature Microphthalmia Syndromic 13; MCOPS13; Maine Microphthalmos; Colobomatous Microphthalmia with Microcephaly, Short Stature, and Psychomotor Retardaon

157 Colobomatous hps://www.ncbi.nlm.nih.gov/labs/arcles/ Short Stature Microphthalmia, 10190477/ Microcephaly, Cerebellar Hypoplasia Combined hps://www.ncbi.nlm.nih.gov/pubmed/ XSCID Short Stature Immunodeficiency, 19189700 Autoimmunity, Spondylometaphysea l Dysplasia Combined hps://www.ncbi.nlm.nih.gov/pubmed/ cblC Poor Growth Methylmalonic 11258350 Aciduria and Homocysnuria Combined Oxidave hps://www.omim.org/entry/614947 COXPD15 Short Stature Phosphorylaon Deficiency 15 Combined Oxidave hps://omim.org/entry/616430? Poor Growth Phosphorylaon search=Combined%20oxidave%20phosphory Associated with Deficiency Type 25 laon%20deficiency%20type%2025&highlight GHD =25%20phosphorylaon%20deficiency%20co mbined%20oxidave%20type Combined Pituitary hp://www.malacards.org/card/ Hormone Deficiency combined_pituitary_hormone_deficiency? search=short+stature Complete Androgen hps://www.ncbi.nlm.nih.gov/pubmed/ Males hit Puberty Insensivity 16491011 at an age Closer to Syndrome Their Female Counterparts Complete Trisomy 21 hp://www.ndss.org/Down-syndrome/What- Small Stature Syndrome Is-Down-syndrome/ Complex 1 Deficiency, hp://jmg.bmj.com/content/jmedgenet/ Mitochondrial Short Stature NDUFB3mutaon early/2016/04/18/ Complex I Deficiency, jmedgenet-2015-103576.full.pdf NDUFB3 Mutaon Complex II Deficiency hps://www.omim.org/entry/252011 Mitochondrial Short Stature Complex II Deficiency Cone-Rod Dystrophy hps://omim.org/entry/608940 Short Stature Congenital Adrenal hps://rarediseases.info.nih.gov/diseases/ Non-classic Congenital Growth Hyperplasia 9592/non-classic-congenital-Adrenal- Adrenal Hyperplasia Abnormality, hyperplasia-due-to-21-hydroxylase-deficiency due to 21-Hydroxylase Adrenal Deficiency Hyperplasia, Hypospadias Congenital Adrenal Short Stature Hyperplasia, Untreated Congenital Anonychia hps://www.ncbi.nlm.nih.gov/medgen/ RBBP8 Syndrome Short Stature 108999 158 Congenital hps://www.researchgate.net/publicaon/ Congenital Short Stature Arthrogryposis, 20629511_Palmoplantar_hyperkeratosis_with Arthrogryposis Apold- Hyperkeratosis, _short_stature_facial_dysmorphism_and_hyp Bindoff Type Apold-Bindoff Type odona--a_new_syndrome_case_report Congenital Cataracts, hps://www.omim.org/entry/604168? Skeletal Facial Dysmorphism, search=Congenital%20Cataracts%2C%20Facial Anomalies, Short and Neuropathy %20Dysmorphism%2C%20and%20Neuropathy Stature &highlight=congenital%20dysmorphism%20ca taract%20facial%20neuropathy Congenital Central hps://www.omim.org/entry/142623? CCHS; Hirschsprung's Short Stature Hypovenlaon search=CCHS%20and%20stature&highlight=cc Disease Syndrome hs%20stature Congenital Chloride hps://rarediseases.info.nih.gov/diseases/ Failure to Thrive, Diarrhea 10001/congenital-chloride-diarrhea Growth Delay Congenital hps://www.ncbi.nlm.nih.gov/pubmed/ Short Stature Contractures 12150211 Congenital Disorder hps://www.omim.org/entry/212065? CDG Ia; CDGIa; Jaeken Short Stature of Glycosylaon search=Congenital%20disorder%20of%20glyc Syndrome; osylaon&highlight=congenital%20of%20disor Phosphomannomutas der%20glycosylaon e 2 Deficiency; Carbohydrate- Deficient Glycoprotein Syndrome, Type Ia, Formerly Congenital Disorder hps://www.ncbi.nlm.nih.gov/books/ Congenital Disorder of Short Stature of Glycosylaon Type NBK1332/ Glycosylaon; CDG; IIm CDG2M Congenital Disorder hps://www.omim.org/entry/616721? CDG IIn; CDGIIn; Short Stature of Glycosylaon Type search=Congenital%20disorder%20of%20glyc CDG2N IIn osylaon%20type%20IIn&highlight=congenital %20disorder%20glycosylaon%20of%20iin%2 0type Congenital Disorder hps://www.omim.org/entry/612379? Coloboma, Ocular, Pituitary of Glycosylaon Type search=Congenital%20disorder%20of%20glyc with Ichthyosis, Brain Hypoplasia Iq osylaon%20type%20Iq&highlight=congenital Malformaons, and %20glycosylaon%20iq%20type%20of%20diso Endocrine rder Abnormalies; CDG Iq; CDGIq; CDG1Q

159 Congenital Disorder hps://www.omim.org/entry/212066? "CDG IIa; CDGIIa; Short Stature of Glycosylaon, Type search=Congenital%20disorder%20of%20Glyc Alkuraya Syndrome; Iia osylaon%2C%20Type%20Iia%20&highlight=c Mental Retardaon, ongenital%20glycosylaon%20of%20iia%20ty Growth Retardaon, pe%20disorder Prominent Columella, and open Mouth; Carbohydrate- Deficient Glycoprotein Syndrome, Type II, Formerly; CDGS2, Formerly Congenital Disorder hps://www.omim.org/entry/266265? CDG IIc; CDGIIc; Short Stature of Glycosylaon, Type search=Congenital%20disorder%20of%20Glyc Leukocyte Adhesion Iic osylaon%2C%20Type%20Iic&highlight=conge Deficiency, Type II; nital%20glycosylaon%20of%20iic%20type%2 LAD2; Rambam- 0disorder Hasharon Syndrome; RHS Congenital Disorder hps://www.omim.org/entry/611209? CDG IIg; CDGIIg; Growth of Glycosylaon, Type search=Congenital%20disorder%20of%20glyc CDGII; COG1; Retardaon, IIg osylaon%2C%20type%20IIg&highlight=conge Cerebrocostomandibu Rhizomelic Short nital%20glycosylaon%20of%20iig%20type%2 lar-Like Syndrome Stature 0disorder Congenital Disorder hps://www.omim.org/entry/614727? CDG IIk; CDGIIk Short Stature of Glycosylaon, Type search=Congenital%20disorder%20of%20Glyc Iik osylaon%2C%20Type%20Iik&highlight=conge nital%20glycosylaon%20of%20type%20disor der%20iik Congenital Disorder hps://www.omim.org/entry/612015? CDG In; CDGIn Short Stature of Glycosylaon, Type search=Congenital%20disorder%20of%20Glyc in osylaon%2C%20Type%20in&highlight=conge nital%20glycosylaon%20of%20in%20type%2 0disorder Congenital Disorder hps://www.omim.org/entry/614921? CDG It; CDGIt; Short Stature of Glycosylaon, Type search=Congenital%20disorder%20of%20Glyc Phosphoglucomutase It osylaon%2C%20Type%20It&highlight=conge 1 Deficiency; PGM1 nital%20glycosylaon%20of%20it%20type%20 Deficiency; Glycogen disorder Storage Disease XIV; GSD14; GSD XIV Congenital Disorders hps://www.omim.org/entry/266265 CDG IIc; CDGIIc; Short Stature of Glycosylaon, Type Leukocyte Adhesion IIc Deficiency, Type II; LAD2; Rambam- Hasharon Syndrome; RHS Congenital hp://familydiagnosis.com/diseases/ Growth Dyserythropoiec congenital-dyserythropoiec-anemia-type-iv/ Abnormality, Short Anemia, Type IV symptoms.htm Stature

160 Congenital Fiber-Type hp://emedicine.medscape.com/arcle/ Short staure Disproporon (CFTD) 1175852-clinical Congenital hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Berardinelli-Seip Short Stature Generalized PMC4923310/ Syndrome Lipodystrophy Congenital Heart hp://www.aboutkidshealth.ca/En/ Anomalies ResourceCentres/CongenitalHeartCondions/ LookingAhead/ TheChildWithCongenitalHeartDisease/Pages/ Growth-Stature.aspx Congenital Heart Short Stature Disease, Choanal Stenosis, Short Stature, Dysmorphic Facies Congenital Hemolyc hp://www.sciencedirect.com/sdfe/pdf/ Interferes with Anemia download/eid/1-s2.0-S0025712516372029/ Skeletal Growth first-page-pdf Congenital Hepac hps://www.ncbi.nlm.nih.gov/books/ CHF Fibrosis NBK2701/ Congenital hps://paent.info/doctor/childhood-and- Hypothyroidism congenital-hypothyroidism Congenital hps://rarediseases.org/rare-diseases/ Postnatal Growth Hypothyroidism, pontocerebellar-hypoplasia/ Retardaon Cerebellar Hypoplasia, Mental Retardaon Congenital hp://www.clinicaladvisor.com/dermatology/ Short Stature Ichthyosiform congenital-ichthyosiform-erythroderma- Erythroderma nonbullous-congenital-ichthyosiform- erythroderma-autosomal-recessive- congenital-ichthyosis/arcle/593841/ Congenital hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Symptom of Lymphedema PMC3986733/ Noonan Congenital hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Short Stature Metacarpal PMC4461611/ Pseudoarthrosis, Cle Palate, Short Stature, Advanced Bone Age, and Congenital Muscular hp://www.sciencedirect.com/science/ Congenital Muscular Short Stature Dystrophy, Cataracts, arcle/pii/S0002929717300198 Dystrophy Intellectual Disability, Mutaons in INPP5K

161 Congenital Muscular hps://rarediseases.org/rare-diseases/ Congenital Muscular Short Stature Dystrophy, Gonadal congenital-muscular-dystrophy/ Dystrophy Dysgenesis Congenital Muscular hps://rarediseases.org/rare-diseases/ Congenital Muscular Short Stature Dystrophy, Muntoni- congenital-muscular-dystrophy/ Dystrophy Brockington Type Congenital Muscular hp://www.familydiagnosis.com/diseases/ Congenital Muscular Growth Dystrophy- congenital-muscular-dystrophy- Dystrophy- Abnormality, Short Dystroglycanopathy dystroglycanopathy-with-mental-retardaon- Dystroglycanopathy Stature with Mental type-b6/symptoms.htm with Mental Retardaon, Type B6 Retardaon, Type B6 Congenital Muscular hps://www.ncbi.nlm.nih.gov/medgen/ Cornelia De Lange Short Stature Hypertrophy-Cerebral 315658 Syndrome Syndrome Congenital Myopathic hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Arthrogryposis Arthrogryposis, PMC2698792/ Seizures Congenital Myopathy hp://www.neurology.org/content/ Short Stature 82/10_Supplement/P2.334 Congenital Myopathy, hp://emedicine.medscape.com/arcle/ Malignant Kyphoscoliosis, Compton-North Type 1175852-clinical Hyperthermia Short Stature Congenital Nephroc hps://rarediseases.info.nih.gov/diseases/ Failure to Thrive, Syndrome Finnish 1500/congenital-nephroc-syndrome-finnish- Small for Type type Gestaonal Age, Hypothyroidism, Growth Delay Congenital hp://medical- Achondroplasia Short Stature , diconary.thefreediconary.com/ Polymicrogyria Congenital+osteosclerosis Congenital Rubella hps://naonaldb.org/library/page/2126 IUGR Syndrome Congenital Sensory hp://journals.sagepub.com/doi/abs/ GHD Neuropathy, Skeletal 10.1177/088307389300800312 Dysplasia Congenital Short hps://rarediseases.org/rare-diseases/short- Malnutrion Bowel Syndrome bowel-syndrome/ Congenital See Fetal toxoplasma Toxoplasmosis Congenital hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Oliver-McFarlane Growth Trichomegaly PMC1771479/ Syndrome Retardaon Congenital Variant hp://www.forgoendiseases.org/assets/ Re Syndrome Very Short Stature Re Syndrome Re_syndrome.html Congenital Varicella hps://rarediseases.info.nih.gov/diseases/45/ IUGR Frequent IUGR Syndrome congenital-varicella-syndrome

162 Congesve Heart hp://www.aboutkidshealth.ca/En/ Shorter than Failure ResourceCentres/CongenitalHeartCondions/ Normal LookingAhead/ TheChildWithCongenitalHeartDisease/Pages/ Growth-Stature.aspx Connecve Tissue Sckler-Like Syndrome Short Stature Disease has Short Stature; It is a Group of Connecve Tissue Disorders Connecve Tissue hps://www.schn.health.nsw.gov.au/parents- Connecve Tissue Short Stature Dysplasia, and-carers/fact-sheets/connecve-ssue- Disorders Breathnach Type dysplasia-0 Cono-Spondylar hps://www.ncbi.nlm.nih.gov/medgen/ CROGVMalformaon Short Stature Dysplasia 799492 Syndrome Conotruncal Anomaly hp://pediatrics.aappublicaons.org/content/ 22q11.2 Deleon; Short Stature, Face Syndrome 101/5/929 DiGeorge Sequence or GHD Velocariofacial Syndrome (VCFS) Conotruncal Heart hps://www.omim.org/entry/217095 Conotruncal Heart Short Stature Defect, Malformaons; CTHM Microphthalmia Constuonal hp://emedicine.medscape.com/arcle/ Growth Delay, Growth Deleonay 919677-overview? Short Stature, pa=I9dHWqrms7KGmUxY36n924UBQngbOev Pubertal Delay QMAekty9APVnf0PPBrvqM7p%2F963LCXLBwZ ZFhLee0MRoYa7OAUoJj25kQX8%2BpKxaTdQd y9ZGt7Vc%3D Contractural hps://rarediseases.info.nih.gov/diseases/ Beals Syndrome; Disproporonate Arachnodactyly, 5899/congenital-contractural-arachnodactyly Arachnodactyly, Tall Stature Congenital Contractural Beals Type; Contractures, Mulple with Arachnodactyly; Ear Anomalies- Contractures- Dysplasia of Bone with Kyphoscoliosis; Beals-Hecht Syndrome; CCA; Distal Arthrogryposis Type 9 Contractures, hps://www.ncbi.nlm.nih.gov/pubmed/ IUGR oedema, 3840649 hyperkeratosis, Growth Retardaon Contractures, hps://rarediseases.info.nih.gov/diseases/ Contractures Short Stature Webbed Neck 4839/short-stature-contractures-hypotonia

163 Copper Deficiency, hps://rarediseases.info.nih.gov/diseases/ Failure to Thrive Familial Benign 1522/index Corneal Crystals, hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Short Stature, Myopathy, PMC1850966/ Retarded Sexual Neuropathy Development, Small Thyroid, Atrophic Kidneys Corneal Dermoids, hps://www.researchgate.net/publicaon/ Peters' plus Syndrome Short Stature Short Stature 11260071_The_P Cornelia De Lange hps://ghr.nlm.nih.gov/condion/cornelia-de- CdLS; Brachmann-de Syndrome lange-syndrome Lange Syndrome Cornelia De Lange hps://www.omim.org/entry/122470? CDL; CDLS; Typus Postnatal Growth Syndrome 1 search=Cornelia%20de%20Lange- Degeneravus Retardaon Like%20syndrome%2C%20TAF6%20mutaon& Amstelodamensis; De highlight=langelike%20syndrome%20taf6%20s Lange Syndrome; yndromic%20de%20lange%20mutaon%20co Brachmann-De Lange rnelia%20like Syndrome; BDLS Cornelia De Lange hps://www.omim.org/entry/300590? Cornelia De Lange Distal Limb Syndrome 2 search=Cornelia%20De%20Lange%20syndrom Syndrome, X-Linked; Defects, Growth e%202%20&highlight=syndrome%20syndromi CDLS, X-LINKED Retardaon c%20de%20lange%202%20cornelia Cornelia De Lange hps://www.omim.org/entry/610759? Distal Limb Syndrome 3 search=Cornelia%20De%20Lange%20syndrom Defects, Growth e%203&highlight=syndrome%20syndromic%2 Retardaon 0de%20lange%203%20cornelia Cornelia De Lange hps://www.omim.org/entry/614701? Delayed Skeletal Syndrome 4 search=Cornelia%20De%20Lange%20syndrom Age e%204&highlight=syndrome%20syndromic%2 0de%20lange%204%20cornelia Cornelia De Lange hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Syndrome-Like, PMC4592075/ HDAC8 Mutaons Corneodermatoosseo hps://www.ncbi.nlm.nih.gov/mesh/ Short Stature us Syndrome 67536444 Corneo-dermato- hp://www.orpha.net/consor/cgi-bin/ Stern-Lubinsky-Durrie Short Stature osseous Syndrome Disease_Search.php? Syndrome lng=EN&data_id=2860&Disease_Disease_Sear ch_diseaseType=ORPHA&Disease_Disease_Se arch_diseaseGroup=3194&Disease(s)/ group%20of%20diseases=Corneodermatoosse ous-syndrome&tle=Corneodermatoosseous- syndrome&search=Disease_Search_Simple Coronary Heart hps://www.ncbi.nlm.nih.gov/pubmed/ Short Stature Disease 20530501 Corpus Callosum hps://rarediseases.info.nih.gov/diseases/ Growth Delay Agenesis 1535/corpus-callosum-agenesis

164 Corpus Callosum hps://www.ncbi.nlm.nih.gov/pubmed/ Short Stature Defects, 6777026 Developmental Deleonay, Short Stature, Facial Dysmorphism Corpus Callosum, hps://www.omim.org/entry/217980? Toriello-Carey Postnatal Growth Agenesis of, with search=Corpus%20Callosum%2C%20Agenesis Syndrome Delay Facial Anomalies and %20of%2C%20with%20Facial%20Anomalies% Robin Sequence 20and%20Robin%20Sequence&highlight=sequ ence%20with%20of%20facial%20callosum%2 0agenesi%20corpus%20anomaly%20robin Corpus Callosum, hps://www.omim.org/entry/300472? Short Stature Agenesis of, with search=Corpus%20Callosum%2C%20Agenesis Mental Retardaon, %20of%2C%20with%20Mental%20Retardao Ocular Coloboma and n%2C%20Ocular%20Coloboma%20and%20Mi Micrognathia crognathia&highlight=ocular%20mental%20co loboma%20of%20callosum%20retardaon%2 0agenesi%20corpus%20with%20micrognathia Corcal Blindness, hps://www.omim.org/entry/218010? Growth Retardaon, and search=Corcal%20Blindness%2C%20Retarda Retardaon Postaxial Polydactyly on%2C%20and%20Postaxial%20Polydactyly& highlight=postaxial%20polydactylous%20cor cal%20polydactyl%20retardaon%20blindness %20hexadactyly%20polydactyly%20hyperdact yly Corcal Defects, hps://www.omim.org/entry/604922? Short Stature Wormian Bones, and search=Corcal%20Defects%2C%20Wormian Dennogenesis %20Bones%2C%20and%20Dennogenesis%20 Imperfecta Imperfecta&highlight=dennogenesi%20wor mian%20imperfecta%20defect%20corcal%20 bone Corsone Reductase hps://www.ncbi.nlm.nih.gov/pmc/arcles/ CORTRD1 Precocious Deficiency 1 PMC3054023/ Puberty Corsone Reductase hps://www.omim.org/entry/614662 CORTRD2 Precocious Deficiency 2 Puberty Costello Syndrome hp://www.nature.com/gim/journal/v14/n3/ full/gim0b013e31822dd91fa.html COUSIN Syndrome hps://www.omim.org/entry/260660 Cowden Disease Type hps://rarediseases.org/rare-diseases/ 2 Segmental epidermal-nevus-syndromes/ Cowden Syndrome hps://www.peds.ufl.edu/divisions/genecs/ PTEN Hamartoma newsleers/macrocephaly.pdf Tumor Syndrome- PHTS Group of Thyroid Tumors

165 Coxa Plana hps://www.ncbi.nlm.nih.gov/medgen/6035 LCPD; Legg-Calve- Perthes Disease; Legg- Calve-Perthes Syndrome; Legg- Perthes Disease; Osteochondris Deformans; Perthes Disease Coxoauricular hps://www.omim.org/entry/122780 Syndrome Crane-Heise hp://www.orpha.net/consor/cgi-bin/ 1-1,000,000 Syndrome OC_Exp.php?lng=en&Expert=1512 Cranio-Cerebello- hp://www.orpha.net/consor/cgi-bin/ 3C Syndrome 1-1,000,000 Cardiac Syndrome OC_Exp.php?Lng=GB&Expert=7 Craniodiaphyseal hp://ehealthhall.com/craniodiaphyseal- CDD Dysplasia dysplasia.html Craniodiaphyseal hps://www.ioonehealth.org/osteoporosis- Dysplasia, Autosomal musculoskeletal-disorders/skeletal-rare- Dominant Type disorders/craniodiaphyseal-dysplasia- autosomal Craniodigital hp://www.malacards.org/card/ Short Stature SyndromeIntellectual craniodigital_syndrome_intellectual_disability Disability Syndrome _syndrome Cranioectodermal hps://ghr.nlm.nih.gov/condion/ Cranioectodermal Renal Failure, Dysplasia cranioectodermal-dysplasia Dysplasia 1 Craniosynostosis, Short Stature Cranioectodermal hps://omim.org/entry/613610? Skeletal Dysplasia 2 search=Cranioectodermal%20dysplasia%204% Anomalies, Renal 20&highlight=cranioectodermal%20dysplasia Failure, Short %204%20dysplasc Limbs Cranioectodermal hps://omim.org/entry/614099? Skeletal Dysplasia 3 search=Cranioectodermal%20dysplasia%204% Anomalies, Renal 20&highlight=cranioectodermal%20dysplasia Failure, Short %204%20dysplasc Limbs Cranioectodermal hps://omim.org/entry/614378? Skeletal Dysplasia 4 search=Cranioectodermal%20dysplasia%204% Anomalies, Renal 20&highlight=cranioectodermal%20dysplasia Failure, Short %204%20dysplasc Limbs Cranioectodermal hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Sensebrenner Short Stature Dysplasia, Lammer- PMC3032067/ Syndrome Margolis Type Craniofacial hps://www.omim.org/entry/608227 Growth Anomalies, Cataracts, Retardaon Congenital Heart Disease, Sacral Neural Tube Defects

166 Craniofacial Short Limbs Anomalies, Humero- Radial Synostosis, Rhizomelic Short Limbs Craniofacial hp://www.malacards.org/card/ Short Stature Dysmorphism, craniofacial_dysmorphism_skeletal_anomalies Skeletal Anomalies, _and_mental_retardaon_syndrome? and Mental search=Craniofacial+Dysmorphism%2C+ Retardaon +Skeletal+Anomalies%2C+ Syndrome +and+Mental+Retardaon+syndrome Craniofacial hp://www.malacards.org/card/ Short Stature Dysostosis with craniofacial_dysostosis_with_diaphyseal_hype Diaphyseal rplasia?search=short+stature Hyperplasia Craniofacial hp://docslide.net/documents/syndrome-of- Short Limb Dysostosis, a-craniofacial-dysostosis-limb-malformaon- Defects Omphalocele, Limb and-omphalocele.html Defects Craniofacial hp://www.orpha.net/consor/cgi-bin/ Short Stature Dysplasia- OC_Exp.php?lng=EN&Expert=459061 ShortStature- Ectodermal Anomalies- Intellectual Disability Syndrome Craniofacial hps://www.ncbi.nlm.nih.gov/pubmed/ Short Stature Dyssynostosis with 19396832 Short Stature Cranio-Facial hp://www.orpha.net/consor/cgi-bin/ Haspeslagh-Fryns- Short Stature Syndrome OC_Exp.php?lng=EN&Expert=2994 Muelenaere Syndrome Craniofacial hps://www.omim.org/entry/617164 Short Stature Syndrome, Mutaons in ARCN1 Craniofaciofrontodigit hp://www.malacards.org/card/ Delayed Skeletal al Syndrome craniofaciofrontodigital_syndrome? Maturaon, search=Craniofaciofrontodigital+Syndrom Macrocephaly, Short Stature Cranio-Facio-Fronto- hps://www.omim.org/entry/114620 Cranio-Facio-Fronto- Short Stature Digital Syndrome Digital Syndrome Craniofrontonasal hps://www.omim.org/entry/304110 Craniofrontonasal Short Stature Dysplasia Dysplasia Cranio-Lenculo- hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Cranio-Lenculo- Short Stature Sutural Dysplasia PMC4143380/ Sutural Dysplasia

167 Craniometadiaphysea hp://www.malacards.org/card/ Short Stature l Dysplasia craniometadiaphyseal_dysplasia? search=Craniometadiaphyseal+dysplasia Craniometaphyseal hps://www.ncbi.nlm.nih.gov/medgen/ Unually Shaped Dysplasia, Autosomal 338945 Long Bones of the Dominant Type Legs Craniomicromelic hps://www.semancscholar.org/paper/ Short Limbs, IUGR Syndrome Craniomicromelic-syndrome-a-newly- recognized-letha-Barr-Heideleonberger/ a1715bba08ddd8451fa9992f8a4853fce6bf77e f Cranio-Oculo-Dental hps://rarediseases.org/rare-diseases/oculo- Oculo-Dento-Digital Short Stature Syndrome dento-digital-dysplasia/ Dysplasia Dento- Oculo-Osseous Dysplasia; Oculodentodigital Dysplasia; Oculo Dento Digital Dysplasia; Oculo- Dento-Osseous Dysplasia; ODDD; ODD Syndrome; ODOD, Osseous-Oculo-Dento Dysplasia Cranioosteoarthropat hp://www.malacards.org/card/ Disproporonate hy cranioosteoarthropathy? Tall Stature search=%5Belite%5D+RORC Craniopharyngioma hps://rarediseases.info.nih.gov/diseases/ Adrenal Failure, 10486/craniopharyngioma Delayed Puberty and Stunted Growth, Diabetes Craniosynostosis hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Craniosynostosis (29 Overview PMC3214317/ Types) Craniosynostosis, hp://www.checkorphan.org/diseases/ Short Stature Fibular Aplasia craniosynostosis-fibular-aplasia Craniosynostosis, hps://www.ncbi.nlm.nih.gov/pubmed/ Hunter-McAlpine Short Stature Hunter-McAlpine 8723067 Craniosynostosis Syndrome Craniosynostosis, hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Saethre-Chotzen Short stature Mental Retardaon, PMC3214317/ Syndrome Heart Defects Craniosynostosis, hps://www.researchgate.net/publicaon/ Craniosynostosis, Abnormalies of Waardenburg Type 229561683_Review_and_Update_of_Mutao Waardenburg Type the Limbs ns_Causing_Waardenburg_syndrome Creane Deficiency hps://www.omim.org/entry/300352 Cerebral Creane Short Stature Syndrome, X-linked Deficiency Syndrome 1; CCDS1 168 Cri Du Chat hps://rarediseases.info.nih.gov/diseases/ IUGR Syndrome 6213/cri-du-chat-syndrome Crisponi/CISS1 hps://www.ncbi.nlm.nih.gov/pubmed/ COG6 Deficiency Syndrome 23606727 Crohn's Disease hps://rarediseases.info.nih.gov/diseases/ Crohn's Colis Growth Delay 10232/crohns-disease Crome Syndrome hp://www.orpha.net/consor/cgi-bin/ Acrometageria Small Stature Disease_Search_Simple.php?lng=EN Crouzon Syndrome hps://www.ncbi.nlm.nih.gov/books/ Crouzon Syndrome Tall Stature with Acanthosis NBK1455/ Nigricans CTCF Mutaons, hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Variety of Genec Short Stature Intellectual Disability PMC2448833/ Anomalies Culler-Jones hps://www.omim.org/entry/615849 Culler-Jones GHD Syndrome Syndrome Curatolo-Cilio hps://rarediseases.info.nih.gov/diseases/ Failure to Thrive Pessagno Syndrome 5560/white-maer-hypoplasia-corpus- callosum-agenesis-Intellectual-disability- syndrome Curry-Hall Syndrome hps://www.ncbi.nlm.nih.gov/gtr/condions/ Mild Short Stature C0457013/ Curry-Jones hps://books.google.com/books? Short Stature, Syndrome id=idyBAAAAQBAJ&pg=PA544&lpg=PA544&dq Failure to Thrive =Curry+Jones+syndrome+and+stature&source =bl&ots=EJULkk2c4x&sig=9QDc9gZRFF6gi4fQ MuTS- G48f_4&hl=en&sa=X&ved=0ahUKEwidv6CPX TAhXI8CYKHU3gDEkQ6AEIMjAC#v=onepage& q=Curry%20Jones%20syndrome%20and%20st ature&f=false Cushing Syndrome hp://www.endocrine-abstracts.org/ea/0020/ Pediatric Cushing Short Stature ea0020p516.htm Syndrome Cutaneous hps://rarediseases.info.nih.gov/diseases/ Kala-azar; Short Stature Leishmaniasis 6881/leishmaniasis Visceral Leishmaniasis (Subtype); Cutaneous leishmaniasis (Subtyp e) Cutaneous hps://rarediseases.info.nih.gov/diseases/ Hennekam Beemer Short Stature Mastocytosis, 3409/mastocytosis-cutaneous-with-short- Syndrome; Skin Conducve Hearing stature-conducve-hearing-loss-and-microa Mastocytosis Hearing Loss and Microa Loss Microcephaly Mild Dysmorphic Features and Severe Mental Retardaon Cus Laxa hps://rarediseases.org/rare-diseases/cus- Cus Laxa Mulple 1-1,000,000 laxa/ Types [IUGR] 169 Cus Laxa Type 2, hp://www.orpha.net/consor/cgi-bin/ Autosomal Recesive OC_Exp.php?Expert=90350&lng=EN Cus Laxa, Dandy- hp://onlinelibrary.wiley.com/doi/10.1111/j. Growth Walker 1399-0004.1994.tb04040.x/abstract? Retardaon Malformaon, systemMessage=Wiley+Online+Library+ Cardiac Defects %27Journal+Subscribe+ %2F+Renew%27+page+will+be+down+on+We dnesday+05th+July+starng+at+08.00+EDT+ %2F+13.00+BST+ %2F+17.30+IST+for+up+to+75+minutes+due+t o+essenal+maintenance. Cus Laxa, Dandy- hps://www.ncbi.nlm.nih.gov/pubmed/ Walker Syndrome, 12892171 Immunodeficiency Cus Laxa, hp://www.scielo.br/scielo.php? Developmental script=sci_arext&pid=S1415-4757200500020 Deleonay, 0001 Epiphyseal Dysplasia, Deafness Cus Laxa, Facial hp://jmg.bmj.com/content/jmedgenet/ Short Stature Dysmorphism, Cle 41/6/e77.full.pdf Palate Cus Laxa, hps://www.ncbi.nlm.nih.gov/books/ LTBP-4 related Cus Pulmonary NBK5200/ laxa Hypertension Cus Marmorata hps://rarediseases.info.nih.gov/diseases/ Telangiectaca 6228/cus-marmorata-telangiectaca- Congenita congenita Cus Vercis Gyrata, hps://www.researchgate.net/publicaon/ Cus Vercis gyrata Microcephaly and Thyroid Aplasia, 12159887_microcephaly_cus_vercis_gyrata too much GH Mental Retardaon _of_the_scalp_renis_pigmentosa_cataracts _sensorineural_deafness_and_mental_retarda on_in_two_brothers Cyclic Voming hps://rarediseases.info.nih.gov/diseases/ Growth Delay Syndrome 6230/cyclic-voming-syndrome Cyclin-Dependent hp://www.research.org/Design/files/ CDKL5 Precocious Kinase-Like 5 CDKL5%20mutated%20child_Am%20J%20Me Puberty d%20Genet%202009%20149A%201046.pdf Cysc Angiomatosis hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Berardinelli-Seip with Seip Syndrome PMC4923310/ Syndrome; Congenital Generalized lipodystrophy Cysc Fibrosis hps://www.ncbi.nlm.nih.gov/pubmed/ CF Delayed Puberty 12729402 Cysnosis hps://www.ncbi.nlm.nih.gov/pubmed/ Failure to Thrive, 20301574 Short Stature

170 Cytochrome P450, hp://www..org/cgi-bin/ CYP19A1 Precocious Family 19, Subfamily carddisp.pl?gene=CYP19A1 Puberty A, Polypepde 1 Cytochrome P450, hps://www.omim.org/entry/610613 CYP11B1 Precocious Subfamily XIB, Puberty Polypepde 1 Cytomegalovirus hps://www.ncbi.nlm.nih.gov/pubmed/ Tall Stature Infecon 14714744 D Ercole Syndrome hp://www.checkorphan.org/diseases/d- Short Stature, ercole-syndrome Small Head, Retarded Fetal Growth D-2-Hydroxyglutaric hps://omim.org/entry/614875 D-2-hydroxyglutaric Aciduria Aciduria Dacryocyss hp://onlinelibrary.wiley.com/doi/10.1002/ Short Stature ajmg.10783/abstract? systemMessage=Wiley+Online+Library+will+b e+unavailable+on+Saturday+01st+July+from+ 03.00-09.00+EDT+and+on+Sunday+2nd+July+ 03.00-06.00+EDT+for+essenal+maintenance. ++Apologies+for+the+inconvenience. Daentl Towsend hp://www.rightdiagnosis.com/d/ Short Stature, Siegel Syndrome daentl_townsend_siegel_syndrome/ Kidney Disease symptoms.htm Dahlberg Borer hp://familydiagnosis.com/diseases/ Short Stature Newcomer Syndrome dahlberg-borer-newcomer-syndrome/ symptoms.htm Daish Hardman hp://www.orpha.net/consor/cgi-bin/ Hydrocephaly-Tall Tall Stature Lamont Syndrome Disease_Search.php? Stature-Joint Laxity lng=EN&data_id=2071&Disease_Disease_Sear Syndrome ch_diseaseType=ORPHA&Disease_Disease_Se arch_diseaseGroup=2181&Disease(s)/ group%20of%20diseases=Daish-Hardman- Lamont-syndrome&tle=Daish-Hardman- Lamont- syndrome&search=Disease_Search_Simple Dandy-Walker hp://www.academia.edu/14222468/ Dandy-Walker Complex, Familial_Dandy- Malformaon Macrocephaly, Facial Walker_malformaon_Associated_with_macr Anomalies ocephaly_facial_anomalies_Developmental_d elay_and_brain_stem_dysgenesis_Prenatal_di agnosis_and_postnatal_outcome_in_brothers. _A_new_syndrome Dandy-Walker Cyst, See Dandy-Walker Meningocele, Microphthalmia

171 Dandy-Walker See Dandy-Walker Malformaon, Facial Hemangioma Dandy-Walker See Dandy-Walker Malformaon, Polydactyly Da-Silva Syndrome hps://www.ncbi.nlm.nih.gov/pubmed/ Severe Growth 8209892 Retardaon Dauwerse-Peters hps://rarediseases.info.nih.gov/diseases/ Short Stature Syndrome 10568/dauwerse-peters-syndrome D-CHRAMPS hps://www.researchgate.net/publicaon/ Short stature Syndrome 11371722_Cerebellar_hypoplasia_hypergonad otrophic_renis_pigmentosa_alopecia_micr ocephaly_psychomotor_retardaon_and_shor t_stature_D-CHRAMPS_syndrome DCMA Syndrome hps://rarediseases.info.nih.gov/diseases/ IUGR 12964/dcma-syndrome De Barsy Syndrome hps://rarediseases.org/rare-diseases/de- Autosomal barsy-syndrome/ Recesive Cus Laxa Type 3; ARCL3; Corneal Clouding-Cus Laxa-Intellectual Disability; DBS; De Barsy-Moens- Dierckx Syndrome; Progeroid Syndrome of De Barsy De Hauwere hp://disorders.eyes.arizona.edu/category/ Short Stature Syndrome alternate-names/de-hauwere-syndrome De Sancs-Cacchione hps://rarediseases.org/rare-diseases/de- Xerodermic Idiocy Dwarfism Syndrome sans-cacchione-syndrome/ Deafness Enamel hp://www.malacards.org/card/ Diabetes Hypoplasia Nail deafness_enamel_hypoplasia_nail_defects Defects Deafness epiphyseal hp://www.orpha.net/consor/cgi-bin/ Chiy-Hall-Baraitser Short Stature Dysplasia Short OC_Exp.php?lng=en&Expert=3218 Syndrome Stature Syndrome Deafness, Congenital, hps://www.omim.org/entry/221350 Short Stature with Viligo and Achalasia

172 Deafness, Epiphyseal hps://rarediseases.info.nih.gov/diseases/ Growth Retardaon, Short Stature Dysplasia, Short 1688/deafness-epiphyseal-dysplasia-short- Deafness, Femoral Stature stature Epiphyseal Dysplasia, and Lacrimal Duct Obstrucon; Deafness, Femoral Epiphyseal Dysplasia, Short Stature and Developmental Delay; Chiy-Hall-Baraitser Syndrome Deafness, Pituitary hps://books.google.com/books? Dwarfism Dwarfism id=xwA6DDbXEhgC&pg=PA344&lpg=PA344&d q=%C2%A0Deafness, +pituitary+dwarfism%C2%A0+AND+STATURE& source=bl&ots=DtZHypZHiT&sig=8qS_bpsuHpl IujL54lWQMEq1kMo&hl=en&sa=X&ved=0ahU KEwjd_NLO4vXTAhWBSCYKHUciCdcQ6AEIOzA E#v=onepage&q=%C2%A0Deafness%2C%20pi tuitary%20dwarfism%C2%A0%20AND%20STAT URE&f=false Deficiency of Glycerol hp://medind.nic.in/icb/t05/i1/ Part of CAH Kinase icbt05i1p67.pdf Deficiency of hp://www.nejm.org/doi/full/10.1056/ Short Stature Hyaluronoglucosamin NEJM199610033351405#t=arcle idase Deficiency of hps://www.omim.org/entry/248360 Short Stature Malonyl-CoA Decarboxylase Deficiency of Steroid hps://www.ncbi.nlm.nih.gov/medgen/82783 Part of CAH 11-Beta- Monooxygenase Delta, Drosophila, hps://www.omim.org/entry/176290 DLK1 Precocious Homolog-Like 1 Puberty Dent Disease hps://www.ncbi.nlm.nih.gov/pubmed/ Short Stature 22876375 Dent Disease 2 hps://www.omim.org/entry/300555 Short Stature Dental Anomalies hps://www.omim.org/entry/601216 Short Stature and Short Stature Dennogenesis hps://www.ncbi.nlm.nih.gov/pubmed/ Short Stature Imperfecta 16011615

173 Dennogenesis hp://www.orpha.net/consor/cgi-bin/ Small Stature Imperfecta-Short Disease_Search.php? Stature-Hearing Loss- lng=EN&data_id=10989&Disease_Disease_Se Intellectual Disability arch_diseaseType=ORPHA&Disease_Disease_ Syndrome Search_diseaseGroup=71267&Disease(s)/ group%20of%20diseases=Dennogenesis- imperfecta-short-stature-hearing-loss- Intellectual-disability- syndrome&tle=Dennogenesis-imperfecta- short-stature-hearing-loss-Intellectual- disability- syndrome&search=Disease_Search_Simple Dermas hps://www.ncbi.nlm.nih.gov/pubmed/ Short Stature 24199610 Dermo-Chondro- hps://books.google.com/books? Abnormal Corneal Dystrophy id=ywwlDQAAQBAJ&pg=PA659&lpg=PA659&d Calcificaon q=Dermo-chondro- Resulng in corneal+dystrophy%C2%A0%C2%A0%C2%A0a Abnormal Bone nd+stature&source=bl&ots=XScKIpd6hs&sig=X Structure yJjCZMJo4_jrn7xkL4s1mGdWac&hl=en&sa=X &ved=0ahUKEwi9t93zo_XTAhVBZCYKHV3GAIg Q6AEILzAD#v=onepage&q=Dermo-chondro- corneal%20dystrophy%C2%A0%C2%A0%C2% A0and%20stature&f=false Dermotrichic hp://www.livingnaturally.com/ns/ Short Stature Syndrome DisplayMonograph.asp? StoreID=3ED1FF6A18BD42979FFF73C8E8CD45 12&DocID=condion- dermotrichicsyndrome#SIGNS%20AND%20SY MPTOMS DeSanto-Shinawi hps://www.omim.org/entry/616708 Short Stature, Syndrome GHD Desbuquois Dysplasia hp://www.malacards.org/card/ DesBuquois Syndrome desbuquois_dysplasia_1? search=Desbuquois+dysplasia Desbuquois Dysplasia hps://www.omim.org/entry/615777? Short Stature 2 search=Desbuquois%20dysplasia%202&highlig ht=desbuquoi%20dysplasia%202%20dysplas c Desmosterolosis hps://ghr.nlm.nih.gov/condion/ Short Stature desmosterolosis Developmental Delay hps://www.omim.org/entry/616901 Loucks-Innes Short Stature with Short Stature, Syndrome Dysmorphic Features, and Sparse Hair

174 Developmental Delay, hp://disorders.eyes.arizona.edu/disorders/ Short Stature Short Stature, Developmental-delay-short-stature- Dysmorphic Features, dysmorphic-features-and-sparse-hair Sparse Hair, Mutaons in DPH1 Devriendt Syndrome hp://journals.lww.com/clindysmorphol/ Devriendt Syndrome Short Stature Abstract/2005/01000/ A_second_case_of_Devriendt_syndrome. 4.aspx Dextrocardia hp://www.healthline.com/health/ May not grow dextrocardia#causes2 Correctly Diabetes Insipidus, hps://www.ncbi.nlm.nih.gov/pubmed/ Short Stature Nephrogenic 465186 Diabetes Insipidus, hps://www.ncbi.nlm.nih.gov/pubmed/ Short Stature Nephrogenic, with 18599930 Mental Retardaon and Intracerebral Calcificaon Diabetes Mellitus, hp://medical- Growth Noninsulin- diconary.thefreediconary.com/non-insulin- Abnormality Dependent dependent+diabetes+mellitus+(NIDDM) Diabetes mellitus, hps://www.ncbi.nlm.nih.gov/books/ SCA13 Short Stature Cerebellar Hypoplasia NBK1138/ Diabetes Mellitus, hp://www.malacards.org/card/ Delayed Puberty Insulin-Resistant, diabetes_mellitus_insulin_resistant_with_aca with Acanthosis nthosis_nigricans Nigrican Diabetes, Ataxia, hp://www.rightdiagnosis.com/p/ Short Stature Proximal Tubulopathy proximal_tubulopathy_diabetes_mellitus_cer ebellar_ataxia/symptoms.htm Diamond Blackfan hps://omim.org/entry/606164? Short Stature Anemia 15 with search=Diamond%20Blackfan%20Anemia%20 Mandibulofacial 15%20with%20Mandibulofacial%20Dysostosis Dysostosis &highlight=diamond%2015%20xv%20mandib ulofacial%20dysostosi%20fieen%20anaemia %20blackfan%20with%20anemia Diamond-Blackfan hps://omim.org/entry/613308? Growth Aemia 9 search=Diamond- Retardaon Blackfan%20Aemia%209&highlight=aemia%20 9%20diamond%20blackfan%20diamondblackf an Diamond-Blackfan hp://www.uniprot.org/diseases/DI-04366 Diamond-Blackfan IUGR, Failure to Anemia Syndrome; DBA14 Trhive

175 Diamond-Blackfan hps://omim.org/entry/105650? Growth Anemia 1 search=Diamond- Retardaon Blackfan%20Aemia%201&highlight=aemia%20 1%20diamond%20blackfan%20diamondblackf an Diamond-Blackfan hps://omim.org/entry/613309? Growth Anemia 10 search=Diamond- Retardaon Blackfan%20Aemia%2010&highlight=aemia%2 010%20diamond%20blackfan%20diamondbla ckfan Diamond-Blackfan hps://omim.org/entry/614900? Growth Anemia 11 search=Diamond- Retardaon Blackfan%20Aemia%2011&highlight=aemia%2 011%20diamond%20blackfan%20diamondbla ckfan Diamond-Blackfan hps://omim.org/entry/615550? Growth Anemia 12 search=Diamond- Retardaon Blackfan%20Aemia%2012&highlight=twelve% 2012%20xii%20diamondblackfan%20diamond %20aemia%20blackfan%20dozen Diamond-Blackfan hps://omim.org/entry/610629? Growth Anemia 3 search=Diamond- Retardaon Blackfan%20Aemia%203&highlight=aemia%20 3%20diamond%20blackfan%20diamondblackf an Diamond-Blackfan hps://omim.org/entry/612527? Growth Anemia 4 search=Diamond- Retardaon Blackfan%20Aemia%204&highlight=aemia%20 diamond%20blackfan%204%20diamondblackf an Diamond-Blackfan hps://omim.org/entry/612528? Growth Anemia 5 search=Diamond- Retardaon Blackfan%20Aemia%205&highlight=aemia%20 blackfan%20diamond%205%20diamondblackf an

176 Diamond-Blackfan hps://ghr.nlm.nih.gov/condion/diamond- Aase-Smith Syndrome Short Stature Anemia 6 blackfan-anemia II; Aase Syndrome; BDA; BDS; Blackfan Diamond Anemia; Blackfan-Diamond Disease; Blackfan- Diamond Syndrome; Chronic Congenital Agenerave Anemia; Congenital Erythroid Hypoplasc Anemia; Congenital Hypoplasc Anemia of Blackfan and Diamond; Congenital Pure Red Cell Anemia; Congenital pure Red Cell Aplasia; DBA; Erythrogenesis Imperfect; Hypoplasc Congenital Anemia; Inherited Erythroblastopenia; pure Hereditary Red Cell Aplasia" Diamond-Blackfan hps://omim.org/entry/612562? Growth Anemia 7 search=Diamond- Retardaon Blackfan%20Aemia%207&highlight=aemia%20 diamond%20blackfan%207%20diamondblackf an Diamond-Blackfan hps://omim.org/entry/612563? Growth Anemia 8 search=Diamond- Retardaon Blackfan%20Aemia%208&highlight=aemia%20 8%20diamond%20blackfan%20diamondblackf an Diaphanospondylody hps://www.omim.org/entry/608022 Abnormal bone sostosis Growth Diaphragmac hps://www.ncbi.nlm.nih.gov/labs/arcles/ Agenesis, Mulple 2363430/ Midline Defects Diaphragmac hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Hernia, PMC1734843/pdf/v038p00269.pdf Hydrocephalus, Heart Defects Diastrophic Dysplasia hps://ghr.nlm.nih.gov/condion/diastrophic- Diastrophic Dwarfism; Dwarfism dysplasia Diastrophic Nanism Syndrome; DTD; DD DIDMOAD Syndrome hps://www.ncbi.nlm.nih.gov/pubmed/ Wolfram Syndrome Short Stature 12650300 177 Diencephalic hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Diencephalic Failure to Thrive Syndrome PMC4342778/ Syndrome DiGeorge Syndrome hps://www.ncbi.nlm.nih.gov/pubmed/ 22q11.2 Short Stature 22075807 Microdeleon Digital Anomalies hps://www.ncbi.nlm.nih.gov/labs/arcles/ Short Stature Intellectual Disability 23307567/ Short Stature Syndrome Digital Arthropathy- hps://www.omim.org/entry/606835 Disproporonate Brachydactyly, Short Stature, Familial Skeletal Dysplasia Digitotalar hps://www.omim.org/entry/126050 Short Stature Dysmorphism Dihydrolipoamide hps://rarediseases.info.nih.gov/search? Maple Syrup Urine Growth Delay Dehydrogenase Keyword=Growth%20disorders&page=36 Disease Type III Deficiency Dihydropyrimidinase hp://www.orpha.net/consor/cgi-bin/ Growth Deficiency OC_Exp.php?lng=EN&Expert=38874 Retardaon, Failure to Trhive Dilated hps://ghr.nlm.nih.gov/condion/dilated- Short Stature Cardiomyopathy cardiomyopathy-with-ataxia-syndrome Dilated hp://www.nature.com/nrcardio/journal/ Short Stature Cardiomyopathy, v10/n9/fig_tab/nrcardio.2013.105_T2.html Ataxia, Tescular Dysgenesis Diploid-Tripoid hps://rarediseases.info.nih.gov/diseases/ Diploid-Tripoid Growth Mosaicism 10715/diploid-triploid-mosaicism Mosaicism Retardaon Dislocated Hips & hps://www.researchgate.net/publicaon/ Steel Syndrome Short Stature Radial Heads, Carpal 42807066_Steel_syndrome_Dislocated_Hips_ Coalion and_Radial_Heads_Carpal_Coalion_Scoliosis _Short_Stature_and_Characterisc_Facial_Fea tures Disorder of hps://www.ncbi.nlm.nih.gov/pmc/arcles/ Short Stature Hyaluronan PMC4549756/ Metabolism DisproporonateShor hp://www.orpha.net/consor/cgi-bin/ Short Stature-Valvular Severe Short t Stature with Ptosis OC_Exp.php?lng=EN&Expert=2868 Heart Disease- Stature and Valvular Heart Characterisc Facies Lesions Syndrome Distal Arthrogryposis see Arthrogryposis Type 7 Distal Arthrogryposis see Arthrogryposis Types 3, 4, and 6 Distal Arthrogryposis, see Arthrogryposis Bijlsma-Boles Type 178 Distal Arthrogryposis, see Arthrogryposis DAIPT Impaired Propriocepon and Touch Distal Arthrogryposis, see Arthrogryposis Mental Retardaon, Chitayat-Hall Type Distal Arthrogryposis, see Arthrogryposis Rivera Type Distal Arthrogryposis, see Arthrogryposis Type 5 Distal Arthrogryposis, see Arthrogryposis Whistling Face, Pierre Robin Distal Monosomy hps:// Short Stature, 7q36 molecularcytogenecs.biomedcentral.com/ Microcephaly, arcles/10.1186/1755-8166-6-2 Growth Retardaon Distal Muscular hps://www.ncbi.nlm.nih.gov/books/ Charcot-Marie-Tooth; Atrophy, Deafness NBK1358/ CMT Distal Osteosclerosis see Pycnodysostosis

179 Resources

We acknowledge the following websites and databases as resources for informaon of medical condions. We are grateful to those who granted us access to member only resources and informaon. Please remember: We are not medical professionals. This list was developed from a lay perspecve. The purpose of this document is simply to review how many medical condions can impact a child’s health via signs in their growth. ALWAYS consult medical experts for medical informaon and prior to making any medical decision(s).

aacijournal.biomedcentral.co aafp.org aboutkidshealth.ca m academia.edu academic.oup.com accessanesthesiology.mhmedical.co m arca.fiocruz.br archives-pmr.org ashg.org asxl3.com barthsyndrome.org biomedsearch.com bioportal.bioontology.org birpublicaons.org bloodjournal.org bmcmedgenet.biomedcentral bmcmusculoskeletdisord.biomedcentr bmcpediatr.biomedcentral.com .com al.com bohring-opitz.org books.google.com bredagenecs.com cags.org.ae casereports.bmj.com cdc.gov cell.com chargeSyndrome.org checkorphan.org chop.edu chr7.org chromodisorder.org chromosome18.org ciliajournal.biomedcentral.com citeseerx.ist.psu.edu cjhr.org clinicaladvisor.com compbio.charite.de connecon.ebscohost.com content.iospress.com ctdbase.org cursoenarm.net CYSTEINE-RICH PDZ DOMAIN-BINDING deepblue.lib.umich.edu PROTEIN;CRIPT degruyter.com dermnetnz.org diseasesdatabase.com disorders.eyes.arizona.edu dnatesng.uchicago.edu docslide.net dovemed.com ebi.ac.uk ecdc.europa.eu ecommons.aku.edu ehealthhall.com eje-online.org em-consulte.com emedicine.medscape.com en.wikibooks.org en.wikipedia.org endocrine-abstracts.org esdn.org exeterlaboratory.com experienceproject.com extras.springer.com faces-cranio.org familialdysautonomia.org familydiagnosis.com flipper.diff.org forbiddenarchaeology2016.weebly.co forgoendiseases.org m gamuts.net genecs.edu.au genomemedicine.biomedcentral.co m ggc.org ghr.nlm.nih.gov google.com/search 180 gosh.nhs.uk healio.com healthline.com hernaveroots.com hindawi.com hkjpaed.org hopkinsmedicine.org bio2rdf.org hungary.pure.elsevier.com ijdvl.com ijpeonline.biomedcentral.com imsear.li.mahidol.ac.th ioonehealth.org ivami.com jacionline.org jamanetwork.com jewishgenecdiseases.org jmedicalcasereports.biomedcentral. com jmg.bmj.com jneurodevdisorders.biomedcentral.co journals.lww.com m journals.sagepub.com jpeds.com jpma.org.pk jround.co.uk karger.com kplctv.com link.springer.com lilepersonuniquelife.com livingnaturally.com lookfordiagnosis.com luriechidrens.org magicfoundaon.org malacards.com maxcachiafund.org mayoclinic.org mbbsdost.com mda.org meajo.org medcraveonline.com medical- medigest.uk diconary.thefreediconary.com medind.nic.in medlineplus.gov medlink.com medscape.com medscimonit.com merckmanuals.com mgmjournal.com mobile.journals.nic.in molecularcytogenecs.biomedcentr al.com monarchiniave.org mosaicism.bcchr.ca mseqdr.org musculardystrophynews.com my.clevelandclinic.org myalgia.com nas.lf3.cuni.cz naonaldb.org nature.com ncbi.nlm.nih.gov ndss.org nectarmutaon.org nejm.org neoreviews.aappublicaons.org neurology.org nfed.org ninds.nih.gov nmd-journal.com oif.org ojrd.biomedcentral.com omim.org onlinelibrary.wiley.com orpha.net os.gov parjournal.net paent.info pedbase.org pediatrics.aappublicaons.or pediatricweb.com peds.ufl.edu g pmj.bmj.com pnas.org porphyriafoundaon.com previous.malacards.org rad.washington.edu rarechromo.org rarediseases.info.nih.gov rarediseases.org reference.medscape.com researchgate.net research-informaon.bristol.ac.uk revolvy.com rgd.mcw.edu rightdiagnosis.com schn.health.nsw.gov.au

181 scielo.br science.gov sciencedirect.com semancscholar.org sequenom.com signssymptoms.org sjkdt.org sleepeducaon.org smartspeechtherapy.com socialstyrelsen.se sonoworld.com ssmc-tl.com stanfordchildrens.org stjude.org tbrsyndrome.org thalidomide.ca thejns.org thyroidmanager.org tjog-online.com trisomy16.org tropicalgastro.com tsoc.org.tw turkishjournalpediatrics.org unboundmedicine.com uniprot.org uptodate.com verywell.com view.officeapps.live.com wagr.org webmd.com whonamedit.com wohproject.org wrongdiagnosis.com ww4.aievoluon.com

182 Legal Disclaimer

Although great care was exercised in the preparaon of this reference resource, the contributors, editors, publisher, The MAGIC Foundaon nor any affiliated organizaon or foundaon provide no warranty of any kind (explicit or implied) as to the accuracy, reliability or applicability of the data and informaon contained herein. All data in this reference are provided for general informaon guidance only and cannot be used as evidence of: merchantability; medical validity for a parcular purpose; safety; or other purposes.

Informaon provided in this reference is derived from the relevant professional literature, or other sources believed to be reputable by the editors and publisher, as specified in the detailed references. All informaon within this reference is used enrely at the reader’s own risk. Since the circumstances in which the contents of this reference might be employed will differ widely, the editors and published cannot guarantee favorable results and expressly deny any and all liability connected with the use (and consequences of any use) of the informaon and data contained herein.

This reference is intended for readers who are capable of always obtaining the advice of a professional medical person prior to making any medical decision or taking any acon regarding a child’s health and healthcare. Such a person should always consult professional medical advice to determine possible risks, possible tesng and under NO circumstances, whether previously spulated or not in this disclaimer, shall the liability of the contributors, edits or publisher of this reference exceed the original purchase price of this reference and this shall constute the sole remedy available to the purchaser (and subsequent readers) of this book. No liability is accepted for consequenal or implied damages of any kind resulng from use of this reference.

Contact Person with regards to materials contained herein is: Jamie Harvey, ICOSEP Chief Execuve Officer [email protected]

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