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Prevalence distribution of rare diseases

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80 Number of diseases 60 November 2009 40 May 2014 Number 1

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0 0 5 10 15 20 25 30 35 40 45 50 Estimated prevalence (/100000)

Prevalence of rare diseases: Bibliographic data

Listed in alphabetical order of disease or group of diseases

www.orpha.net Methodology

A systematic survey of the literature is being Updated Data performed in order to provide an estimate of the New information from available data sources: EMA, prevalence of rare diseases in Europe. An updated new scientific publications, grey literature, expert report will be published regularly and will replace opinion. the previous version. This update contains new epidemiological data and modifications to existing data for which new information has been made Limitation of the study available. The exact prevalence rate of each is difficult to assess from the available data sources. Search strategy There is a low level of consistency between studies, a poor documentation of methods used, confusion The search strategy is carried out using several data between incidence and prevalence, and/or confusion sources: between incidence at birth and life-long incidence. - Websites: Orphanet, e-, GeneClinics, EMA The validity of the published studies is taken for and OMIM ; granted and not assessed. It is likely that there - Registries, RARECARE is an overestimation for most diseases as the few - Medline is consulted using the search algorithm: published prevalence surveys are usually done in «Disease names» AND Epidemiology[MeSH:NoExp] regions of higher prevalence and are usually based OR Incidence[Title/abstract] OR Prevalence[Title/ on hospital data. Therefore, these estimates are an abstract] OR Epidemiology[Title/abstract] ; indication of the assumed prevalence but may not be accurate. - Medical books, grey literature and reports from experts are also important sources of data.

Collected data Prevalence values provided are the mean of the highest and lowest values collected. When prevalence is not documented we calculate it using incidence: - For congenital diseases with birth-onset, prevalence = incidence at birth x (patient life expectancy/ general population life expectancy) ; - For the other rare diseases, prevalence = incidence x rare disease mean duration ; When no prevalence or incidence data are available, the number of cases or families reported in the literature is provided. The * sign indicates a life time prevalence. The ** sign indicates a birth prevalence. It was used when the birth prevalence was the only data available and a prevalence estimate was not possible because of a large variability in the duration of the disease. NB: Life expectancy of the French population (81 years) is used as the general population life expectancy.

For any questions or comments, please contact us: [email protected]

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 2 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf Prevalence or reported number of published cases listed in alphabetical order of disease or group of diseases

Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 94063 12q14 microdeletion syndrome 4 cases 926 Acatalasemia 3.2 199318 15q13.3 microdeletion syndrome 150 cases 48818 Aceruloplasminemia 0.1 94065 15q24 microdeletion syndrome 4 cases 929 Achalasia - 5 cases 1606 1p36 syndrome 15** 931 < 10 families 268261 21q22.13q22.2 microdeletion syndrome 12 cases 932 2.8** 567 22q11.2 deletion syndrome 5.6** 15 2.6** 79157 2-methylbutyryl-CoA dehydrogenase deficiency < 30 cases 49382 Achromatopsia 2.7 163693 2p21 microdeletion syndrome 7 cases 2561 Ackerman syndrome 8 cases 1617 2q24 microdeletion syndrome 23 cases 79086 Acquired generalized lipodystrophy > 100 251019 2q32q33 microdeletion syndrome < 25 cases cases 1001 2q37 microdeletion syndrome 10 cases 73274 Acquired hemophilia 0.1 7 3C syndrome 25 cases 2221 Acquired lanuginosa 60 cases 35701 3-hydroxy-3-methylglutaryl-CoA synthase 9 cases 99147 Acquired Von Willebrand syndrome 300 cases deficiency 36 34 cases 2616 3M syndrome 40 cases 2008 Acro-cardio-facial syndrome 9 cases 67046 3-methylglutaconic aciduria type 1 20 cases 949 Acrocraniofacial 2 cases 2975 46,XX disorder of sex development - skeletal 2 cases anomalies 37 Acrodermatitis enteropathica 0.2 2138 46,XX ovotesticular disorder of sex > 500 1786 Acrofacial dysostosis, Catania type 6 cases development cases 64542 Acrofacial dysostosis, Kennedy-Teebi type 2 cases 168558 46,XY disorder of sex development - adrenal 9 cases 1787 Acrofacial dysostosis, Palagonia type 4 cases insufficiency due to CYP11A1 deficiency 1788 Acrofacial dysostosis, Rodríguez type < 10 752 46,XY disorder of sex development due to 0.68 cases 17-beta-hydroxysteroid dehydrogenase 3 deficiency 1784 Acro-fronto-facio-nasal dysostosis 5 cases 168563 46,XY gonadal dysgenesis - motor and sensory 6 cases 965 Acromegaloid facial appearance syndrome < 20 cases neuropathy 963 Acromegaly 6 10 48,XXYY syndrome 1.9** 964 Acromegaly - cutis verticis gyrata - corneal 16 cases 22 4-hydroxybutyric aciduria 450 cases leukoma 33572 5-oxoprolinase deficiency 8 cases 39 Acromelanosis < 10 cases 75857 6q terminal deletion syndrome 19 cases 953 Acromesomelic dysplasia, Brahimi-Bacha type 3 cases 171829 6q16 deletion syndrome 7 cases 968 Acromesomelic dysplasia, Hunter-Thomson 10 cases type 178303 8q22.1 microdeletion syndrome 4 cases 40 Acromesomelic dysplasia, Maroteaux type 50 cases 915 Aarskog-Scott syndrome 0.4** 969 Acromicric dysplasia < 40 cases 916 Aase-Smith syndrome < 10 cases 955 Acroosteolysis dominant type 50 cases 920 Ablepharon syndrome 15 cases 85203 Acro-pectoral syndrome 22 cases 921 Abruzzo-Erickson syndrome 4 cases 956 Acro-pectoro-renal dysplasia 12 cases 1658 Absence of fingerprints - congenital milia 14 cases 957 Acropectorovertebral dysplasia < 30 cases 2951 Absent thumb - short stature - 3 cases 971 Acrorenal syndrome 20 cases 67043 Acanthamoeba keratitis 1 958 Acro-renal-mandibular syndrome 7 cases 90301 - Insulin resistance - 5 cases 959 Acro-renal-ocular syndrome < 20 muscle cramps - acral enlargement families

* Lifetime prevalence ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 3 Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 163696 Action - renal failure syndrome 17 cases 56 0.5 69736 Acute bilateral of the iris 5 cases 59 Allan-Herndon-Dudley syndrome 89 cases 98916 Acute inflammatory demyelinating 3.1 1005 Alopecia - contractures - - 5 cases polyradiculoneuropathy 79276 Acute intermittent porphyria 0.54 1008 Alopecia - epilepsy - pyorrhea - intellectual 12 cases disability 79126 Acute interstitial 3.8 700 Alopecia totalis 10.5 90062 Acute failure 23 701 Alopecia universalis 25 98918 Acute motor axonal neuropathy 0.1 726 Alpers syndrome 0.7** 98917 Acute motor-sensory axonal neuropathy 0.1 60 Alpha-1-antitrypsin deficiency 25 519 Acute myeloid 11* 61 Alpha-mannosidosis 0.2** 55881 Adamantinoma 0.11* 3137 Alpha-N-acetylgalactosaminidase deficiency < 20 2952 Adducted thumbs - arthrogryposis, Christian 3 families cases type 847 Alpha- - X-linked intellectual > 200 45 Adenosine monophosphate deaminase > 100 disability syndrome cases deficiency cases 63 2 46 Adenylosuccinate lyase deficiency 50 cases 2131 Alternating hemiplegia of childhood 0.9** 1501 Adrenocortical carcinoma 1 284 Alveolar < 1000 2666 Adult familial nephronophthisis - spastic 2 cases cases quadriparesia 1021 Amaurosis - hypertrichosis 2 cases 178487 Adult intestinal botulism 19 cases 1946 Amelo-cerebro-hypohidrotic syndrome 39 cases 829 Adult Still's disease 1.25 171836 and gingival 4 cases 978 ADULT syndrome 14 cases hyperplasia syndrome 209335 Adult-onset proximal spinal muscular atrophy, 0.1 1908 Aminopterin/methotrexate embryofetopathy 17 cases autosomal dominant 1034 Amniotic bands 4** 83617 Agammaglobulinemia - microcephaly - 3 cases - severe dermatitis 69 Amyloidosis 30 52055 Agenesis of the corpus callosum - intellectual 2 cases 803 Amyotrophic lateral sclerosis 5.2 disability - - micrognathia 228113 Anal fistula 23 98850 Aggressive systemic 0.2 98841 Anaplastic large cell 2 990 - - situs inversus 30 cases 142 Anaplastic thyroid carcinoma 0.1 50 1** 157954 ANE syndrome 5 cases 51 Aicardi-Goutières syndrome 120 cases 72 Angelman syndrome 1.1 52 0.4** 63442 Angel-shaped phalango-epiphyseal dysplasia 15 cases 178333 Åland Islands eye disease > 5 2346 Angio-osteohypertrophic syndrome 0.8** families 69088 Anhidrotic 2 cases 2007 Alar hypoplasia - coloboma - 2 cases - immunodeficiency - - telecanthus 53 Albers-Schönberg osteopetrosis 5 1069 Aniridia - absent patella 3 cases 998 - syndrome 1 family 1065 Aniridia - cerebellar - intellectual > 10 35664 ALDH18A1-related 32 cases disability families 58 300 cases 1067 Aniridia - - intellectual disability - 3 cases familial 79324 ALG12-CDG 11 cases 1064 Aniridia - renal agenesis - psychomotor 2 cases 79327 ALG1-CDG 15 cases retardation 79326 ALG2-CDG 1 case 1068 Aniridia-intellectual disability syndrome 2 cases 79321 ALG3-CDG 10 cases 1070 Anisakiasis 3.8 79320 ALG6-CDG 58 cases 1074 Ankyloblepharon filiforme - 2 families 79325 ALG8-CDG 8 cases 2206 Ankylosing vertebral hyperostosis with tylosis 8 cases 79328 ALG9-CDG 3 cases 675 Annular 1.8** 139477 Al-Gazali-Dattani syndrome 3 cases 1094 - microcephaly 5 cases

* Lifetime prevalence ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 4 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 69125 Anonychia with flexural pigmentation 3 cases 85175 Astley-Kendall dysplasia 5 cases 91129 Anophthalmia - and pulmonary 2 cases 94 Astrocytoma 2.5 anomalies - intellectual disability 1188 Ataxia-deafness-retardation syndrome 8 cases 1102 Anophthalmia - hypothalamo-pituitary 30 cases 100 Ataxia- 1 insufficiency 1190 Atelosteogenesis type I 12 cases 1101 Anophthalmia - megalocornea - cardiopathy - 3 cases skeletal anomalies 56304 Atelosteogenesis type II 25 cases 1104 Anophthalmia plus syndrome 4 cases 56305 Atelosteogenesis type III < 25 cases 77298 Anophthalmia/microphthalmia - esophageal 30 cases atresia 69739 Athabaskan dysgenesis syndrome 10 cases 2987 Antecubital pterygium syndrome 11 cases 1192 Atherosclerosis - deafness - - epilepsy 2 cases - nephropathy 83 Antley-Bixler syndrome 34 cases 95713 Athyreosis 3.5 63269 Antley-Bixler syndrome with genital anomaly < 50 cases and disorder of steroidogenesis 1193 Atkin-Flaitz syndrome 14 cases 1110 Aortic arch anomaly - peculiar facies - 4 cases 163934 Atopic keratoconjunctivitis 15 intellectual disability 1201 Atresia of small intestine 16 2299 Aortic arch interruption 0.3** 1479 - atrioventricular 11 cases 88636 Aortic dilatation - joint hypermobility - 22 cases conduction defects arterial tortuosity 844 Atrial tachyarrhythmia with short PR interval 12 cases 3400 Aorto-ventricular tunnel 130 cases 1456 Atypical coarctation of 0.17** 87 1.25 2134 Atypical hemolytic uremic syndrome 1 1112 Aphalangy - hemivertebrae - urogenital- 3 cases 3095 Atypical 2.22 intestinal dysgenesis 77300 Auricular abnormalities - cleft with or 2 cases 1113 Aphalangy - - microcephaly 1 family without cleft - ocular abnormalities 1117 Aplasia cutis - myopia 4 cases 71270 Auriculoocular anomalies - cleft lip 2 cases 1116 - intestinal 3 cases 114 Auriculoosteodysplasia 2 families lymphangiectasia 137911 Autism - facial port-wine stain 4 cases 99981 Apnea of prematurity 8.5 3261 Autoimmune lymphoproliferative syndrome > 500 1129 - abnormal - 5 cases cases intellectual disability 99 Autosomal dominant cerebellar ataxia 3 1130 Arachnodactyly - intellectual disability - 3 cases dysmorphism 99940 Autosomal dominant Charcot-Marie-Tooth 1 family disease type 2F 1133 AREDYLD syndrome 3 cases 99941 Autosomal dominant Charcot-Marie-Tooth 1 family 35704 : amidinotransferase deficiency 9 cases disease type 2G 23 Argininosuccinic aciduria 0.45 99944 Autosomal dominant Charcot-Marie-Tooth 3 families 91 13 cases disease type 2K 1134 Arrhinia 20 cases 99945 Autosomal dominant Charcot-Marie-Tooth 1 family disease type 2L 1135 Arrhinia - choanal atresia - microphthalmia 4 cases 73229 Autosomal dominant familial hematuria - 8 cases 247 Arrhythmogenic right ventricular dysplasia 43.5 retinal arteriolar tortuosity - contractures 1682 Arterial dissection - 4 cases 1810 Autosomal dominant hypohidrotic ectodermal 40 cases 3342 Arterial tortuosity syndrome < 80 cases dysplasia 1485 Arthrogryposis - , lethal form 2 cases 89937 Autosomal dominant hypophosphatemic < 100 rickets cases 2697 Arthrogryposis - renal dysfunction - < 100 cholestasis cases 93114 Autosomal dominant intermediate Charcot- 10 cases Marie-Tooth disease type E 1037 Arthrogryposis multiplex congenita 5.7** 503 Autosomal dominant 0.4** 1150 Arthrogryposis multiplex congenita - whistling 10 cases 266 Autosomal dominant limb-girdle muscular 2 families dystrophy type 1A 1144 Arthrogryposis-like anomaly - 1 family sensorineural deafness 264 Autosomal dominant limb-girdle muscular 0.2 dystrophy type 1B 1253 Ascher syndrome 50 cases

* Lifetime prevalence ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 5 Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 34516 Autosomal dominant limb-girdle muscular 5 families 119 Autosomal recessive limb-girdle muscular 0,1 dystrophy type 1D dystrophy type 2E 34517 Autosomal dominant limb-girdle muscular 5 families 219 Autosomal recessive limb-girdle muscular 0.3 dystrophy type 1E dystrophy type 2F 55595 Autosomal dominant limb-girdle muscular 1 family 34514 Autosomal recessive limb-girdle muscular 14 cases dystrophy type 1F dystrophy type 2G 55596 Autosomal dominant limb-girdle muscular 1 family 34515 Autosomal recessive limb-girdle muscular 1 dystrophy type 1G dystrophy type 2I 65743 Autosomal dominant multiple pterygium 4 cases 206549 Autosomal recessive limb-girdle muscular 14 cases syndrome dystrophy type 2L 67036 Autosomal dominant optic atrophy and 14 cases 206554 Autosomal recessive limb-girdle muscular 3 cases dystrophy type 2M 2783 Autosomal dominant osteopetrosis type 1 33 cases 206580 Autosomal recessive lower motor 5 cases disease with childhood onset 1010 Autosomal dominant palmoplantar 10 cases and congenital alopecia 667 Autosomal recessive malignant osteopetrosis 0.75** 88924 Autosomal dominant polycystic disease 30 cases 93329 Autosomal recessive omodysplasia 23 cases type 1 with 731 Autosomal recessive polycystic kidney disease 1.2 34528 Autosomal dominant primary hypomagnesemia 3 families 1507 Autosomal recessive < 100 with hypocalciuria cases 209867 Autosomal dominant rhegmatogenous retinal 38 cases 100995 Autosomal recessive spastic paraplegia type 14 1 family detachment 100996 Autosomal recessive spastic paraplegia type 15 < 10 3107 Autosomal dominant Robinow syndrome 100 cases families 100991 Autosomal dominant spastic paraplegia type < 10 209951 Autosomal recessive spastic paraplegia type 18 9 cases 10 families 101003 Autosomal recessive spastic paraplegia type 23 1 family 100993 Autosomal dominant spastic paraplegia type < 10 12 families 101004 Autosomal recessive spastic paraplegia type 24 1 family 100994 Autosomal dominant spastic paraplegia type < 10 101005 Autosomal recessive spastic paraplegia type 25 1 family 13 families 101006 Autosomal recessive spastic paraplegia type 26 2 families 100998 Autosomal dominant spastic paraplegia type < 20 101007 Autosomal recessive spastic paraplegia type 27 2 families 17 families 101008 Autosomal recessive spastic paraplegia type 28 6 cases 101009 Autosomal dominant spastic paraplegia type 1 family 29 101010 Autosomal recessive spastic paraplegia type 30 1 family 171612 Autosomal dominant spastic paraplegia type 13 cases 171622 Autosomal recessive spastic paraplegia type 32 1 family 37 171629 Autosomal recessive spastic paraplegia type 35 1 family 171617 Autosomal dominant spastic paraplegia type 1 family 139480 Autosomal recessive spastic paraplegia type 39 2 families 38 782 Axenfeld-Rieger syndrome 0.5 100988 Autosomal dominant spastic paraplegia type 6 10 families 168549 Axial spondylometaphyseal dysplasia 3 cases 100989 Autosomal dominant spastic paraplegia type 8 < 10 79332 B4GALT1-CDG 1 case families 36234 Bacterial toxic-shock syndrome 3 100990 Autosomal dominant spastic paraplegia type 9 1 family 93395 Ballard syndrome 12 cases 1027 Autosomal recessive 3 cases 1226 Bamforth syndrome 5 cases 88644 Autosomal recessive ataxia, Beauce type 57 cases 1227 Bangstad syndrome 2 cases 1172 Autosomal recessive cerebellar ataxia 7 1228 Banki syndrome 1 family 95433 Autosomal recessive cerebellar ataxia - 3 families 2995 Baraitser-Winter syndrome 30 cases blindness - deafness 1231 Barber-Say syndrome 10 cases 95434 Autosomal recessive cerebellar ataxia - 1 family saccadic intrusion 110 Bardet-Biedl syndrome 0.7 267 Autosomal recessive limb girdle muscular 1 111 0.22 dystrophy type 2A 1234 Bartsocas-Papas syndrome 24 cases 268 Autosomal recessive limb-girdle muscular 0.13 166113 Bazex syndrome 145 cases dystrophy type 2B 113 Bazex-Dupré-Christol syndrome 143 cases 353 Autosomal recessive limb-girdle muscular 0,2 dystrophy type 2C 67038 B-cell chronic lymphocytic leukemia 27

* Lifetime prevalence ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 6 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 116 Beckwith-Wiedemann syndrome 2.3** 1267 Botulism 0.05 1237 Beemer-Ertbruggen syndrome 2 cases 83313 Boutonneuse 17 117 Behçet disease 4 1276 - arterial > 10 families 1241 Bencze syndrome 2 families 2946 Brachydactyly - long 4 cases 71269 Benign exophthalmos syndrome 4 cases 1246 Brachydactyly - - cerebellar ataxia 1 family 140927 Benign familial neonatal-infantile 10 families 1278 Brachydactyly - preaxial hallux varus 8 cases 209973 Benign familial nocturnal alternating < 10 93389 Brachydactyly type A5 2 families hemiplegia of childhood cases 93382 Brachydactyly type A6 7 cases 71518 Benign paroxysmal torticollis of infancy 50 cases 1292 Brachymorphism - onychodysplasia - 9 cases 528 Berardinelli-Seip congenital lipodystrophy 0.25 dysphalangism 274 Bernard-Soulier syndrome 100 cases 1295 Brachytelephalangy - dysmorphism - Kallmann 2 cases syndrome 118 Beta-mannosidosis 0.14** 52047 Braddock syndrome 2 cases 848 Beta-thalassemia 0.5 75374 Bradyopsia 5 cases 65287 Beta-ureidopropionase deficiency 5 cases 178506 calcification, Rajab type 8 cases 610 Bethlem 0.77 168598 Brain demyelination due to 2 cases 140963 Bilateral microtia - deafness - cleft palate 4 cases adenosyltransferase deficiency 1848 Bilateral renal agenesis 2** 75389 Brain malformation - congenital heart disease 2 cases 1980 Bilateral striopallidodentate calcinosis < 200 - postaxial polydactyly cases 36414 Brain stem tumor 3.5 30391 2.9** 209905 Brain--thyroid syndrome < 20 cases 122 Birt-Hogg-Dubé syndrome 0.5 50815 Branchiogenic deafness syndrome 5 cases 123 Björnstad syndrome 33 cases 1297 Branchio-oculo-facial syndrome < 50 124 Blackfan-Diamond anemia 0.67** cases 93930 Bladder exstrophy 2.8 1299 Branchio-skeleto-genital syndrome 3 cases 73271 Bleeding diathesis due to a collagen receptor < 20 85284 BRESEK syndrome 2 cases defect cases 70589 Bronchopulmonary dysplasia 13 1997 Blepharo-cheilo-odontic syndrome > 50 2771 Bruck syndrome < 40 cases cases 1251 Blepharofacioskeletal syndrome 2 cases 130 Brugada syndrome 20 1252 Blepharonasofacial malformation syndrome 2 families 131 Budd-Chiari syndrome 1.5 2057 Blepharophimosis - ptosis - esotropia - 6 cases 36258 Buerger disease 16 syndactyly - 1867 Bullous dystrophy, macular type 2 families 3047 Blepharophimosis-intellectual disability < 20 syndrome, SBBYS type cases 703 Bullous pemphigoid 2.5 1259 Blepharoptosis - myopia - ectopia lentis 3 cases 46489 Bullous systemic lupus erythematosus 70 cases 171844 Blindness - - arachnodactyly 4 cases 1306 Buschke-Ollendorff syndrome 5 125 265 cases 85293 Cabezas syndrome 1 family 16 Blue cone monochromatism 1 135 CACH syndrome 148 cases 1059 Blue rubber bleb > 200 136 CADASIL 3 cases 280062 Calciphylaxis 5 91135 Body skin hyperlaxity due to vitamin 6 cases 85192 Calvarial doughnut lesions - fragility 20 cases K-dependent coagulation factor deficiency 83472 CAMOS syndrome 5 cases 97297 Bohring-Opitz syndrome < 20 cases 1318 Campomelia, Cumming type 8 cases 1842 Bone dysplasia, lethal Holmgren type 4 cases 140 0.33** 1261 Bonnemann-Meinecke-Reich syndrome 4 cases 1319 Camptobrachydactyly 1 family 1262 Böök syndrome 26 cases 1321 Camptodactyly - fibrous hyperplasia - 3 cases 1263 10 cases skeletal dysplasia 69737 Bosley-Salih-Alorainy syndrome 9 cases

* Lifetime prevalence ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 7 Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 85164 Camptodactyly - tall stature - scoliosis - 30 cases 1459 Celiac disease, epilepsy and cerebral 170 cases loss calcification syndrome 1325 Camptodactyly - taurinuria 4 families 3258 Cenani-Lenz syndrome < 30 cases 1327 Camptodactyly syndrome, Guadalajara type 1 8 cases 75377 Central areolar choroidal dystrophy 3.33 1326 Camptodactyly syndrome, Guadalajara type 2 2 cases 2431 Central bilateral macrogyria 4 cases 2848 Camptodactyly-arthropathy-coxa-vara- < 30 pericarditis syndrome families 597 Central core disease 0.4 1328 Camurati-Engelmann disease > 300 3240 Central calcification - deafness 2 cases cases - tubular acidosis - 1335 Cantrell pentalogy 0.55** 73256 Central neurocytoma > 100 cases 171881 Cap myopathy < 10 cases 1171 Cerebellar ataxia - areflexia - - optic 2 families 160148 Cap polyposis 20 cases atrophy - sensorineural 147 Carbamoylphosphate synthetase deficiency 0.03 46724 Cerebral arteriovenous malformation 6 137628 Cardiac anomalies - heterotaxy 9 cases 2081 Cerebral gigantism - < 10 cases 2872 Cardiocranial syndrome, Pfeiffer type < 10 cases 1393 Cerebro-costo-mandibular syndrome 75 cases 1340 Cardiofaciocutaneous syndrome 250 cases 66625 Cerebro-oculo-nasal syndrome 10 cases 1345 - cataract - spine disease 9 cases 3421 Cerebroretinal vasculopathy 3 families 91130 Cardiomyopathy - - lactic acidosis 2 cases 909 Cerebrotendinous xanthomatosis 2 90022 Cardiomyopathy - renal anomalies 2 cases 2218 Cervical hypertrichosis - 3 cases 3238 Cardiospondylocarpofacial syndrome 3 cases 1401 CHAND syndrome > 10 cases 1358 Carey-Fineman-Ziter syndrome < 20 88642 Channelopathy-associated congenital 20 cases cases insensitivity to 2998 Carnevale syndrome 2 cases 46627 Char syndrome 10 cases 1359 160 cases 166 Charcot-Marie-Tooth disease 22 139411 Carney triad 150 cases 101101 Charcot-Marie-Tooth disease type 2B2 1 family 157 Carnitine palmitoyl transferase II deficiency > 300 101102 Charcot-Marie-Tooth disease type 2H 13 cases cases 99955 Charcot-Marie-Tooth disease type 4B1 11 159 Carnitine-acylcarnitine translocase deficiency 40 cases families 1361 30 cases 99954 Charcot-Marie-Tooth disease type 4H 10 cases 53035 < 250 139515 Charcot-Marie-Tooth disease type 4J 5 cases cases 167 Chédiak-Higashi syndrome 200 cases 65759 > 70 cases 139 CHILD syndrome 60 cases 93973 Carpenter-Waziri syndrome 6 cases 209908 Childhood apraxia of speech 22 cases 2767 Carpotarsal < 10 cases 168782 Childhood disintegrative disorder 2 1368 Cataract - ataxia - deafness 2 cases 3474 CHIME syndrome 8 cases 1383 Cataract - deafness - hypogonadism 3 cases 137914 Choanal atresia 8.6** 1387 Cataract - intellectual disability - < 20 cases hypogonadism 1200 Choanal atresia - deafness - cardiac defects - 5 cases dysmorphism 1380 Cataract - nephropathy - 2 cases 70567 2.1 162 Cataract-glaucoma 3 families 1414 Cholestasis - lymphedema 50 cases 1377 Cataract-microcornea syndrome 8 families 1415 Cholestasis - pigmentary retinopathy - cleft 5 cases 717 Catecholamine-producing tumor 10 palate 3286 Catecholaminergic polymorphic ventricular 10 1422 Chondrodysplasia - disorder of sex 2 cases tachycardia development 1388 Catel-Manzke syndrome > 33 50945 Chondrodysplasia, Blomstrand type 13 cases cases 55880 3.55 195 Cat-eye syndrome 1.35 178 Chordoma 0.05 50839 Cat-scratch disease 6.6 1433 Choroidal atrophy - alopecia 2 cases 66631 CEDNIK syndrome 7 cases

* Lifetime prevalence ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 8 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 180 1.5 1572 Common variable immunodeficiency 4 1435 Choroideremia - deafness - obesity 4 cases 1329 Complete atrioventricular canal 20** 85278 Christianson syndrome < 30 209932 Cone dystrophy with supernormal rod response 45 cases cases 1872 Cone rod dystrophy 2.5 2137 Chronic autoimmune hepatitis 0.75 973 Congenital absence/hypoplasia of fingers < 10 379 Chronic granulomatous disease 0.4** excluding thumb, unilateral cases 396 Chronic hiccup 1 418 Congenital adrenal hyperplasia 10 2932 Chronic inflammatory demyelinating 3.7 210122 Congenital alveolar dysplasia < 60 polyneuropathy cases 521 Chronic myeloid leukemia 6 86816 Congenital analbuminemia < 50 cases 70591 Chronic thromboembolic pulmonary 3 hypertension 1195 Congenital atransferrinemia 12 cases 93971 Chudley-Lowry-Hoar syndrome 3 cases 48 Congenital bilateral absence of vas deferens 50 1451 CINCA syndrome 100 cases 79302 Congenital bile acid synthesis defect type 3 2 cases 69744 Circumscribed palmoplantar hypokeratosis 17 cases 79095 Congenital bile acid synthesis defect type 4 5 cases 187 14.4 71278 Congenital brain dysgenesis due to 2 cases synthetase deficiency 168984 CLAPO syndrome 6 cases 2040 Congenital bronchobiliary fistula 23 cases 394 Classical 1.65 1369 Congenital cataract - hypertrophic 40 cases 1995 Cleft lip - retinopathy 2 cases cardiomyopathy - 2001 Cleft lip/palate - - 4 cases 48431 Congenital - facial dysmorphism - 160 cases cardiopathy neuropathy 2015 Cleft palate - short stature - vertebral 2 cases 2140 Congenital diaphragmatic 21.2** anomalies 137 Congenital disorder of glycosylation 1.5** 2010 Cleft palate - stapes fixation - oligodontia 2 cases 85 Congenital dyserythropoietic anemia 1 2016 Cleft palate-lateral synechia syndrome 7 cases 103910 Congenital enterocyte heparan sulfate 3 cases 1453 Cleidorhizomelic syndrome 2 cases deficiency 93929 Cloacal exstrophy 0.75 79277 Congenital erythropoietic porphyria > 200 53721 Cobb syndrome 35 cases cases 51577 Cobblestone 1** 325 Congenital factor II deficiency 0.05 191 200 cases 326 Congenital factor V deficiency 0.1 1458 CODAS syndrome 3 cases 327 Congenital factor VII deficiency 0.33 192 Coffin-Lowry syndrome 1.5 328 Congenital factor X deficiency 0.2 1465 Coffin-Siris syndrome < 100 329 Congenital factor XI deficiency 0.1 cases 331 Congenital factor XIII deficiency 0.05 1466 COFS syndrome < 20 335 Congenital fibrinogen deficiency 0.15 cases 1023 Congenital generalized hypertrichosis, Ambras 40 cases 79333 COG7-CDG 9 cases type 95428 COG8-CDG 2 cases 174590 Congenital hypogonadotropic hypogonadism 20 1467 Cogan syndrome 200 cases 442 Congenital hypothyroidism 29 193 Cohen syndrome 200 cases 95711 Congenital hypothyroidism due to 21.3 31824 Colchicine poisoning 0.1 developmental anomaly 157820 Cold-induced sweating syndrome 6 cases 95715 Congenital hypothyroidism due to 1 2050 Cole-Carpenter syndrome 4 cases transplacental passage of maternal TSH- binding inhibitory 36205 Collagenous colitis 10.5 2271 Congenital - microcephalus - 2 cases 1471 Coloboma of macula - brachydactyly type B 12 cases tetraplegia 1474 Colobomatous - microphthalmia - heart 10 cases 1229 Congenital intrauterine -like > 30 disease - hearing loss syndrome cases 35909 Combined deficiency of factor V and factor 0.5 657 Congenital isolated hyperinsulinism 20 VIII

* Lifetime prevalence ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 9 Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 209893 Congenital isolated thyroxine-binding globulin 46 1509 Coxo-podo-patellar syndrome 47 cases deficiency 1513 Craniodiaphyseal dysplasia < 20 cases 1954 Congenital lethal erythroderma 17 cases 1514 Craniodigital syndrome - intellectual disability 5 cases 210163 Congenital lethal myopathy, Compton-North 4 cases 1515 Cranioectodermal dysplasia 15 cases type 85168 Craniofacial conodysplasia 1 family 83620 Congenital malabsorptive diarrhea due to 3 cases paucity of enteroendocrine cells 1529 Craniofacial-deafness-hand syndrome 3 cases 93109 Congenital megacalycosis > 50 1521 Craniofrontonasal dysplasia - Poland anomaly 3 cases cases 50814 Craniolenticulosutural dysplasia 28 cases 97242 Congenital 5 1522 Craniometaphyseal dysplasia 70 cases 157973 Congenital muscular dystrophy due to LMNA 15 cases 1525 Cranio-osteoarthropathy 30 cases 54595 Craniopharyngioma 2 258 Congenital muscular dystrophy type 1A 0.3 63260 Craniorachischisis 5 34520 Congenital muscular dystrophy with 0.03 alpha-7 deficiency 157832 Craniorhiny 3 families 75840 Congenital muscular dystrophy, Ullrich type 0.13 1538 Craniosynostosis - Dandy-Walker malformation 4 cases - 590 Congenital myasthenic syndromes 0.3 1535 Craniosynostosis - dysmorphism - 5 cases 97245 3.8 brachydactyly 2772 Congenital - 3 cases 1533 Craniosynostosis - fibular aplasia 2 cases microcephaly - cataracts 171839 Craniosynostosis - hydrocephalus - Chiari I 4 cases 66630 Congenital pseudoarthrosis of > 200 malformation - radioulnar cases 52054 Craniosynostosis - intracranial calcifications 3 cases 2414 Congenital pulmonary lymphangiectasia > 100 cases 1541 Craniosynostosis, Boston type 19 cases 3189 Congenital pulmonary valve stenosis 28.4** 1527 Craniosynostosis, Philadelphia type 1 family 290 Congenital rubella syndrome 0.29** 1534 Craniosynostosis-radial aplasia, Imaizumi type 2 cases 35122 Congenital sucrase-isomaltase deficiency 20 90290 CREST syndrome 8 858 Congenital toxoplasmosis 33** 204 Creutzfeldt-Jakob disease 0.1 216694 Congenitally corrected transposition of the 0.3** 205 Crigler-Najjar syndrome 0.1** great 1545 Crisponi syndrome < 30 2391 Congenitally short costocoracoid ligament 1 family cases 1484 Contractures - ectodermal dysplasia - cleft lip/ 2 cases 1461 Criss-cross heart 0.8** palate 2930 Cronkhite-Canada syndrome 500 cases 1487 Cooks syndrome 11 cases 207 Crouzon disease 0.9 1488 Cooper-Jabs syndrome 2 cases 1547 Cryptomicrotia - brachydactyly - excess 2 cases 1051 Corneal anesthesia - deafness - intellectual 2 cases fingertip arch disability 1549 Cryptosporidiosis 34 1490 Corneal dystrophy - perceptive deafness < 10 1552 Currarino triad 1 cases 1553 Curry-Jones syndrome 9 cases 3177 Corneal-cerebellar syndrome 2 cases 96253 Cushing disease 4 199 Cornelia de Lange syndrome 1** 553 Cushing syndrome 6.5 94062 Coronary disease - hyperlipidemia - 1 family hypertension - diabetes - osteoporosis 535 Cutaneous lupus erythematosus 50 1389 Cortical blindness - intellectual disability - 3 cases 66646 Cutaneous mastocytosis 0.75 79140 Cutaneous neuroendocrine carcinoma 4 278 Corticobasal degeneration 4 2881 Cutaneous photosensitivity - lethal colitis 3 cases 54251 -sensitive aseptic abscesses 49 cases 1555 Cutis gyrata - acanthosis nigricans - 6 cases syndrome craniosynostosis 3071 300 cases 209 0.1** 201 0.45 1556 Cutis marmorata telangiectatica congenita 300 cases 1508 Coxoauricular syndrome 4 cases 1557 Cutis verticis gyrata - intellectual disability 1.02

* Lifetime prevalence ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 10 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 2686 Cyclic 0.1 1425 Desbuquois syndrome > 40 cases 2674 Cyprus facial-neuromusculoskeletal syndrome 1 family 35107 2 cases 212 7 163988 Developmental delay - deafness, Hildebrand 1 family type 586 Cystic fibrosis 12.6 79107 Developmental malformations - deafness - 2 cases 2111 Cystic hamartoma of lung and kidney < 5 cases dystonia 85136 Cystic leukoencephalopathy without < 50 66637 Diaphanospondylodysostosis < 10 cases megalencephaly cases 2141 Diaphragmatic defect - limb deficiency - skull 4 cases 213 0.5** defect 214 14 628 Diastrophic dwarfism 1.2 75381 Cystoid macular dystrophy 6 families 220393 Diffuse cutaneous systemic sclerosis 4 94087 Cytophagic histiocytic panniculitis < 100 544 Diffuse large B-cell lymphoma 20 cases 2123 Diffuse neonatal hemangiomatosis < 70 137678 Czech dysplasia, metatarsal type < 20 cases cases 86918 Diffuse palmoplantar keratoderma- 10 cases 1562 Dacryocystitis - 5 cases acrocyanosis syndrome 1563 Dahlberg-Borer-Newcomer syndrome 2 cases 1674 Digitorenocerebral syndrome < 10 1566 Dandy-Walker malformation - postaxial 2 cases cases polydactyly 1146 Digitotalar dysmorphism 10 218 Darier disease 2 226 Dihydropteridine reductase deficiency > 150 1831 De Hauwere syndrome 2 cases cases 3214 Deaf blind syndrome, 2 cases 38874 Dihydropyrimidinuria 7 cases Yemenite type 1678 Dincsoy-Salih-Patel syndrome 2 cases 3220 Deafness - - defects 6 cases 166291 Dirofilariasis 25 cases 3224 Deafness - genital anomalies - metacarpal and 2 cases 79168 Disorder of bile acid synthesis 0.6 metatarsal synostosis 2983 Disorder of sex development - intellectual 3 cases 85321 Deafness - intellectual disability, Martin-Probst 3 cases disability type 1307 Distal limb deficiencies - micrognathia 4 cases 3226 Deafness - lymphedema - leukemia < 10 syndrome cases 96148 Distal monosomy 10q 40 cases 3231 Deafness - onychodystrophy < 50 cases 1627 Distal monosomy 5q 10 cases 3239 Deafness - - achalasia 2 cases 96125 Distal monosomy 6p > 35 cases 90024 Deafness with labyrinthine aplasia, microtia, 6 families and 34521 Distal myopathy with early respiratory muscle 24 cases involvement 94064 Deafness-infertility syndrome 3 families 63273 Distal myopathy with posterior leg and 12 cases 1578 Dehydratase deficiency 21 cases anterior hand involvement 79134 DEND syndrome 14 cases 600 Distal myopathy with vocal cord weakness 12 cases 1652 Dent disease 250 3248 Distal symphalangism < 5 families families 101 Dentatorubral pallidoluysian atrophy 0.48 96102 Distal trisomy 10q 40 cases 71267 Dentinogenesis imperfecta - short stature - 2 cases 1745 Distal trisomy 6p 40 cases hearing loss - intellectual disability 91131 DK1-CDG 4 cases 220 Denys-Drash syndrome 150 cases 2143 Donnai-Barrow syndrome 50 cases 1656 Dermatitis herpetiformis 27 230 Dopamine beta-hydroxylase deficiency 12 cases 1266 Dermato-cardio-skeletal syndrome, Borrone 2 cases type 255 Dopa-responsive 0.3 31112 Dermatofibrosarcoma protuberans 10 70594 Dopa-responsive dystonia due to sepiapterin 43 cases reductase deficiency 1659 Dermatoleukodystrophy 2 cases 3427 Double outlet left ventricle 32 cases 221 Dermatomyositis 6 3411 Double - hemivagina - renal agenesis < 60 cases 1657 Dermatoosteolysis, Kirghizian type 5 cases 86309 DPAGT1-CDG 3 cases 1660 Dermo-odonto dysplasia 14 cases

* Lifetime prevalence ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 11 Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 79322 DPM1-CDG 14 cases 139406 Encephalopathy due to prosaposin deficiency < 10 cases 50817 Duane anomaly - myopathy - scoliosis 2 cases 833 Encephalopathy due to sulfite oxidase > 100 233 Duane retraction syndrome 10 deficiency cases 235 0.2** 296 1 98896 Duchenne muscular dystrophy 5 85186 Endosteal sclerosis - cerebellar hypoplasia 4 cases 1203 9 1937 Eng-Strom syndrome 2 cases 178503 Dursun syndrome 2 cases 85438 Enthesitis-related arthritis 5.7 239 Dyggve-Melchior-Clausen disease 60 cases 73247 Eosinophilic esophagitis 50 1765 Dyschondrosteosis - nephritis 1 family 3165 Eosinophilic fasciitis 200 cases 1775 0.1 2070 Eosinophilic gastroenteritis 1 2282 Dysmorphism - short stature - deafness - 2 cases 183 Eosinophilic granulomatosis with polyangiitis 1 disorder of sex development 301 Ependymal tumor 3.85 210571 Dystonia 16 7 cases 35125 Epidermal nevus syndrome > 400 1934 Early infantile epileptic encephalopathy 88 cases cases 1935 Early myoclonic encephalopathy 30 cases 304 simplex 2.4 1177 Early-onset cerebellar ataxia with retained 1 257 Epidermolysis bullosa simplex with muscular > 40 tendon reflexes dystrophy cases 256 Early-onset generalized limb-onset dystonia 0.4 1948 Epilepsy - microcephaly - skeletal dysplasia 2 cases 2554 Ear-patella-short stature syndrome 42 cases 1951 Epilepsy telangiectasia 6 cases 1880 Ebstein malformation 3.5** 79135 type 3 1 family 1235 Ectodermal dysplasia - absent dermatoglyphs < 30 79136 Episodic ataxia type 4 2 families cases 211067 Episodic ataxia type 5 7 cases 1806 Ectodermal dysplasia - blindness 2 cases 209967 Episodic ataxia type 6 4 cases 1816 Ectodermal dysplasia, Berlin type 4 cases 209970 Episodic ataxia type 7 7 cases 1884 Ectopia lentis - chorioretinal dystrophy - 4 cases myopia 103912 Epithelio-exfoliative colitis - deafness 2 cases 1888 - ectodermal dysplasia without 5 cases 35687 Erdheim-Chester disease > 500 clefting cases 1897 EEM syndrome 7 families 999 Ermine 3 cases 98249 Ehlers-Danlos syndrome 0.5** 1955 - ataxia 25 cases 90309 Ehlers-Danlos syndrome type 1 5 317 Erythrokeratodermia variabilis > 200 cases 287 Ehlers-Danlos syndrome, classic type 3.5 79278 Erythropoietic protoporphyria 0.9 1901 Ehlers-Danlos syndrome, dermatosparaxis type 7 cases 1199 24.3 75501 Ehlers-Danlos syndrome, fibronectinemic type 1 family 70482 Esophageal carcinoma 12.2* 285 Ehlers-Danlos syndrome, hypermobility type 12.5 3318 Essential thrombocythemia 24 1900 Ehlers-Danlos syndrome, kyphoscoliotic type 1** 1957 Esthesioneuroblastoma 1200 2953 Ehlers-Danlos syndrome, musculocontractural 22 cases cases type 51188 Ethylmalonic encephalopathy < 40 157965 Ehlers-Danlos syndrome, 6 cases cases spondylocheirodysplastic type 1959 Evans syndrome 0.1 286 Ehlers-Danlos syndrome, vascular type 1 319 Ewing 2.33 1902 Ehrlichiosis < 50 cases 209916 Extraskeletal myxoid chondrosarcoma 0.2 79106 Eiken syndrome 6 cases 3172 Eyebrow duplication - syndactyly 3 cases 289 Ellis Van Creveld syndrome 0.3** 324 0.22** 261 Emery-Dreifuss muscular dystrophy 0.3 1970 Facial dysmorphism - - myopia - 3 cases 2396 Encephalocraniocutaneous lipomatosis 45 cases Dandy-Walker malformation 71277 Encephalopathy due to GLUT1 deficiency 84 cases 85162 Facial onset sensory and motor neuronopathy 4 cases 79155 Encephalopathy due to hydroxykynureninuria < 30 269 Facioscapulohumeral dystrophy 4 cases

* Lifetime prevalence ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 12 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 88619 Familial acute necrotizing encephalopathy 11 cases 1118 Fibular aplasia - ectrodactyly < 50 cases 733 Familial adenomatous polyposis 6 1757 Fibular dimelia - 11 cases 1768 Familial caudal dysgenesis 4 cases 93323 Fibular 2 47045 Familial cold urticaria 0.1 3255 Filippi syndrome < 25 cases 1799 Familial developmental dysphasia 6 families 1272 Fine-Lubinsky syndrome 5 cases 1764 Familial 550 cases 97232 Fingerprint body myopathy < 20 85110 Familial encephalopathy with neuroserpin > 5 cases families 2044 Floating-Harbor syndrome 87 cases 361 Familial glucocorticoid deficiency 50 cases 2047 Flynn-Aird syndrome 10 cases 154 Familial isolated 17.5 2092 300 cases 2238 Familial isolated hypoparathyroidism < 10 families 79133 Focal facial dermal dysplasia type I 81 cases 2239 Familial isolated hypoparathyroidism due to 2 families 48918 Focal myositis 115 cases agenesis of parathyroid gland 1866 Focal, segmental or multifocal dystonia 11.7 75249 Familial isolated restrictive cardiomyopathy 2.5 545 36 768 Familial long QT syndrome 40** 3219 8 cases 338 Familial multiple fibrofolliculoma 7 cases 2253 Foveal hypoplasia - presenile cataract 11 cases 569 Familial or sporadic hemiplegic 10 908 20 79083 Familial partial lipodystrophy associated with 10 cases 137834 Frank-Ter Haar syndrome 5 cases PPARG 2052 0.2** 79085 Familial partial lipodystrophy due to AKT2 1 family mutations 347 Frasier syndrome > 50 cases 2348 Familial partial lipodystrophy, Dunnigan type 300 cases 2053 Freeman-Sheldon syndrome 100 cases 79084 Familial partial lipodystrophy, Köbberling type < 20 cases 85335 Fried syndrome 1 family 71290 Familial platelet syndrome with predisposition < 20 95 Friedreich ataxia 2 to acute myelogenous leukemia families 1826 Frontometaphyseal dysplasia < 30 cases 34527 Familial primary hypomagnesemia with 2 cases 282 Frontotemporal 3 normocalcuria and normocalcemia 348 Fructose-1,6-bisphosphatase deficiency 5** 168624 Familial syndrome, McGillivray 11 cases type 2059 7** 166282 Familial sick sinus syndrome 11 cases 349 Fucosidosis 100 cases 95716 Familial thyroid dyshormonogenesis 4 2854 Fuhrmann syndrome 11 cases 84 0.3 24 Fumaric aciduria < 100 cases 166105 FASTKD2-related infantile mitochondrial 2 cases encephalomyopathy 97295 Furlong syndrome 2 cases 466 Fatal familial insomnia 27 cases 352 Galactosemia 2** 168566 Fatal due to combined 2 cases 2065 Galloway-Mowat syndrome 40 cases oxidative phosphorylation deficiency 3 2066 Gamma-aminobutyric acid transaminase 2 cases 1305 < 50 cases deficiency 2019 Femur-fibula-ulna complex 1.5 33573 Gamma-glutamyl transpeptidase deficiency 7 cases 994 Fetal akinesia deformation sequence 0.6** 33574 Gamma-glutamylcysteine synthetase deficiency 9 cases 1915 Fetal alcohol syndrome 1.6** 2067 GAPO syndrome 27 cases 294 Fetal cytomegalovirus syndrome 40 63443 Gastric 49.2 85212 Fetal Gaucher disease 0.01 44890 Gastrointestinal stromal tumor 13 1917 Fetal methylmercury syndrome 800 cases 2368 Gastroschisis 23.7** 291 Fetal varicella syndrome > 100 355 Gaucher disease 1 cases 2072 Gaucher disease - ophthalmoplegia - < 10 2021 Fibrochondrogenesis 11 cases cardiovascular calcification cases 337 Fibrodysplasia ossificans progressiva 0.05 77259 Gaucher disease type 1 1

* Lifetime prevalence ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 13 Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 77260 Gaucher disease type 2 0.01 1770 Gonadal dysgenesis, XY type - associated 2 cases anomalies 77261 Gaucher disease type 3 0.05 65798 Goodman syndrome 3 cases 79330 GCS1-CDG 2 cases 73 Gorham-Stout disease < 300 2623 Geleophysic dysplasia 27 cases cases 85201 Genitopatellar syndrome 7 cases 377 Gorlin syndrome 1.8 2077 German syndrome 5 cases 2095 Gorlin-Chaudhry-Moss syndrome 7 cases 643 20 53693 GRACILE syndrome 2** families 39812 Graft versus host disease 2.76 2027 Gingival fibromatosis - progressive deafness 2 families 79094 Grange syndrome 7 cases 358 2.5 900 Granulomatosis with polyangiitis 10 2084 Glaucoma - ectopia - microspherophakia - stiff 3 cases joints - short stature 3274 Granulomatous arthritis of childhood 40 families 2085 Glaucoma - sleep apnea 5 cases 33111 Granulomatous slack skin < 50 182067 Glial tumor 10 cases 360 Glioblastoma 1 35858 Gräsbeck-Imerslund disease 300 cases 73223 Global developmental delay - osteopenia - 3 cases 721 Gray platelet syndrome 60 cases ectodermal defect 1426 Greenberg dysplasia < 10 cases 2087 Glomerulonephritis - sparse - < 10 telangiectasis cases 380 Greig cephalopolysyndactyly syndrome 100 cases 141163 Glossopalatine ankylosis 30 cases 381 Griscelli disease 60 cases 35710 -galactose malabsorption 300 cases 2055 Growth deficiency - brachydactyly - 2 families dysmorphism 25 Glutaryl-CoA dehydrogenase deficiency 1** 73272 Growth delay due to insulin-like growth factor 4 cases 32 Glutathione synthetase deficiency 65 cases type 1 deficiency 407 0.17 2102 GTP cyclohydrolase I deficiency 17 cases 365 Glycogen storage disease due to acid maltase 0.8** 382 Guanidinoacetate methyltransferase deficiency 52 cases deficiency 2103 Guillain-Barré syndrome 3.45 2088 Glycogen storage disease due to GLUT2 < 200 deficiency cases 168569 H syndrome 100 cases 367 Glycogen storage disease due to glycogen 0.1** 2342 Haim-Munk syndrome < 100 branching enzyme deficiency cases 2089 Glycogen storage disease due to hepatic 16 cases 1408 Hair defect - photosensitivity - intellectual 3 cases glycogen synthase deficiency disability 34587 Glycogen storage disease due to LAMP-2 84 cases 58017 3.12* deficiency 2108 Hallermann-Streiff syndrome < 100 137625 Glycogen storage disease due to muscle and 3 cases cases heart glycogen synthase deficiency 457 Harlequin ichthyosis < 100 371 Glycogen storage disease due to muscle < 30 cases phosphofructokinase deficiency cases 2116 Hartnup syndrome 4 715 Glycogen storage disease due to muscle < 30 2117 Hartsfield-Bixler-Demyer syndrome 6 cases phosphorylase kinase deficiency cases 99872 Hashimoto-Pritzker syndrome < 50 713 Glycogen storage disease due to 30 cases phosphoglycerate kinase 1 deficiency families 1354 Heart defects - limb shortening 2 cases 97234 Glycogen storage disease due to < 50 phosphoglycerate mutase deficiency cases 2119 HEC syndrome 2 cases 66629 Goldberg-Shprintzen megacolon syndrome 10 cases 178330 anemia < 10 cases 166272 Goldblatt syndrome 11 cases 86813 Helicoid peripapillary chorioretinal 100 cases degeneration 374 2.8 2130 Hemimelia 4.15 53540 Goldmann-Favre syndrome < 50 cases 86817 Hemolytic anemia due to adenylate kinase 12 cases 1986 Gollop-Wolfgang complex 200 cases deficiency 1532 Gómez-López-Hernández syndrome 34 cases

* Lifetime prevalence ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 14 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 712 due to glucophosphate 50 cases 743 Hereditary thrombophilia due to congenital 0.2 isomerase deficiency S deficiency 90030 Hemolytic anemia due to glutathione 3 cases 71291 Hereditary vascular retinopathy 1 family reductase deficiency 3467 Hereditary 150 cases 448 Hemophilia 7.7 79430 Hermansky-Pudlak syndrome 0.15 98878 Hemophilia A 7 183678 Hermansky-Pudlak syndrome with neutropenia 8 cases 98879 Hemophilia B 2 63261 HERNS syndrome 3 families 178396 Hemorrhagic disease due to alpha-1- 3 cases 189 Hidrotic ectodermal dysplasia 1 antitrypsin Pittsburgh mutation 1808 Hidrotic ectodermal dysplasia, Christianson- 6 cases 2136 Hennekam syndrome > 50 Fourie type cases 1809 Hidrotic ectodermal dysplasia, Halal type 4 cases 2135 Hennekam-Beemer syndrome 2 cases 388 Hirschsprung disease 12.1** 890 Hepatic veno-occlusive disease 11 2155 Hirschsprung disease - deafness - polydactyly 2 cases 79124 Hepatic veno-occlusive disease - < 25 immunodeficiency cases 2153 Hirschsprung disease - nail hypoplasia - 3 cases dysmorphism 449 Hepatoblastoma 0.54 2150 Hirschsprung disease - type D brachydactyly 4 cases 88673 1 98293 10 86882 Hepatosplenic T-cell lymphoma 0.03 93970 Holmes-Gang syndrome 3 cases 91378 Hereditary 1 2162 Holoprosencephaly 13.4** 145 Hereditary breast and syndrome 25 392 Holt-Oram syndrome 0.4** 676 Hereditary chronic pancreatitis 0.3 2168 Homocarnosinosis 4 cases 168577 Hereditary cryohydrocytosis with reduced 2 cases stomatin 622 Homocystinuria without methylmalonic 73 cases aciduria 288 Hereditary elliptocytosis 35 85295 HSD10 disease, atypical type 5 cases 90045 Hereditary malabsorption 30 cases 3265 Humero-radial synostosis 150 cases 469 Hereditary fructose intolerance 5 3266 Humero-radio-ulnar synostosis 30 cases 774 Hereditary hemorrhagic telangiectasia 16 1792 Humerospinal dysostosis 5 cases 163 Hereditary hyperferritinemia with congenital > 64 cataracts cases 94056 Humero-ulnar synostosis 5 cases 79091 Hereditary inclusion body myopathy - joint 19 cases 97340 Hunter-McAlpine craniosynostosis 10 cases contractures - ophthalmoplegia 399 Huntington disease 7 2590 Hereditary myoclonus - progressive distal < 10 93473 Hurler syndrome 0.57 muscular atrophy cases 93476 Hurler-Scheie syndrome 0.23 43115 Hereditary myopathy with lactic acidosis due 19 cases to ISCU deficiency 740 Hutchinson-Gilford syndrome 0.005 1062 Hereditary neurocutaneous angioma < 10 2186 Hydrocephalus - blue sclerae - nephropathy 1 family families 2180 Hydrocephalus - costovertebral dysplasia - 8 cases 168583 Hereditary North American Indian childhood 36 cases Sprengel anomaly 2182 Hydrocephalus with stenosis of aqueduct of 1.7 30 Hereditary < 20 cases Sylvius 158025 Hereditary progressive mucinous histiocytosis 13 cases 2181 Hydrocephaly - tall stature - joint laxity 2 cases 178464 Hereditary proximal myopathy with early < 10 2189 Hydrolethalus 5** respiratory failure families 168588 Hyperandrogenism due to reductase 11 cases 970 Hereditary sensory and autonomic neuropathy 35 cases deficiency type 2 209902 Hypercholesterolemia due to 24 cases 139573 Hereditary sensory and autonomic neuropathy 4 cases 7alpha-hydroxylase deficiency with deafness and global delay 83639 Hypercoagulability syndrome due to 2 cases 685 Hereditary spastic paraplegia 5 glycosylphosphatidylinositol deficiency 822 Hereditary 20 163985 Hyperekplexia - epilepsy 2 cases 745 Hereditary thrombophilia due to congenital 0.2 168956 Hypereosinophilic syndrome 1.5 protein C deficiency

* Lifetime prevalence ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 15 Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 343 Hyperimmunoglobulinemia D with periodic 200 cases 254509 Iatrogenic botulism > 180 fever cases 682 Hyperkalemic 0.5 453 IBIDS syndrome 15 cases 1336 Hyperkeratosis- syndrome 10 cases 2268 ICF syndrome 50 cases 411 Hyperlipoproteinemia type 1 0.1 2269 Ichthyosis - alopecia - eclabion - ectropion - 4 cases intellectual disability 412 Hyperlipoproteinemia type 3 7.8 2274 Ichthyosis - hepatosplenomegaly - cerebellar 2 cases 73267 Hypernychthemeral syndrome 18.5 degeneration 415 Hyperornithinemia-- 12 59303 Ichthyosis - hypotrichosis - sclerosing < 20 cases homocitrullinuria cholangitis 157798 Hyperplastic polyposis syndrome 50 2272 Ichthyosis - oral and digital anomalies 2 cases 1519 , Teebi type 20 cases 2273 Ichthyosis follicularis - alopecia - > 40 cases 2220 Hypertrichosis cubiti - short stature 28 cases 88621 Ichthyosis prematurity syndrome 16 2222 Hypertrichosis lanuginosa congenita < 100 families cases 91132 Ichthyosis-hypotrichosis syndrome 4 cases 966 Hypertrichosis-acromegaloid facial appearence < 20 930 Idiopathic achalasia 10 syndrome cases 724 Idiopathic acute eosinophilic pneumonia > 100 2765 Hypertrichotic 18 cases cases 1517 Hypertrichotic osteochondrodysplasia, Cantu 40 cases 422 Idiopathic and/or familial pulmonary arterial 1.5 type hypertension 429 3.3 88 Idiopathic 0.4 36412 Hypocomplementemic urticarial vasculitis < 200 3260 Idiopathic hypereosinophilic syndrome 10 cases 45452 Idiopathic neonatal atrial flutter 2** 989 - hypodactyly < 50 cases 2032 Idiopathic pulmonary fibrosis 11.5 2235 Hypogonadotropic hypogonadism - retinitis 2 cases pigmentosa 69061 Idiopathic -sensitive nephrotic 18 syndrome 1882 Hypohidrotic ectodermal dysplasia - 3 cases hypothyroidism - ciliary dyskinesia 85173 IMAGe syndrome < 20 cases 681 Hypokalemic periodic paralysis 1 42062 6.68 1790 Hypomandibular faciocranial dysostosis 4 cases 37042 Immune dysregulation-polyendocrinopathy- 136 cases 85163 Hypomyelination - congenital cataract 10 cases enteropathy-X-linked syndrome 88637 Hypomyelination - hypogonadotropic 4 cases 3002 Immune thrombocytopenic purpura 25 hypogonadism - 572 Immunodeficiency by defective expression of 100 cases 139441 Hypomyelination with atrophy of 19 cases HLA class 2 and 169100 Immunodeficiency due to CD25 deficiency 2 cases 2237 Hypoparathyroidism - deafness - renal disease 12 cases 70592 Immunodeficiency due to interleukin-1 < 15 cases 436 Hypophosphatasia 0.21** receptor-associated kinase-4 deficiency 2244 Hypopituitarism - microphthalmia < 10 cases 70593 Immunodeficiency due to selective anti- 100 cases 2245 Hypopituitarism - postaxial polydactyly 6 cases polysaccharide deficiency 2248 Hypoplastic left heart syndrome 15.1** 75391 Immunodeficiency with natural-killer cell 4 cases 157788 - hypertelorism - coloboma and 2 cases deficiency and adrenal insufficiency deafness 83449 Inappropriate antidiuretic hormone secretion 2 cases 163690 Hypotonia - cystinuria syndrome 22 cases syndrome 137908 Hypotonia with lactic acidemia and 3 cases 45453 Incessant infant ventricular tachycardia 1.5** hyperammonemia 611 Inclusion body myositis 0.49 69735 Hypotrichosis - lymphedema - telangiectasia 4 cases 464 0.7** 55654 Hypotrichosis simplex 38 cases 98848 Indolent systemic mastocytosis 3.8 1573 Hypotrichosis with juvenile macular 50 cases 1943 Infant epilepsy with migrant focal crisis 29 cases degeneration 1313 Infantile choroidocerebral calcification 10 cases 2266 Hypotrichosis-intellectual disability, Lopes 2 cases syndrome type

* Lifetime prevalence ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 16 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 35069 Infantile neuroaxonal dystrophy > 150 85323 intellectual disability, X-linked, Seemanova 4 cases cases type 1186 Infantile onset 24 cases 85286 intellectual disability, X-linked, Shashi type 9 cases 90003 Inflammatory pseudotumor of the liver 143 cases 85324 intellectual disability, X-linked, Shrimpton 3 cases type 254504 Inhalational botulism 10 cases 85287 intellectual disability, X-linked, Siderius type 4 cases 210141 Inherited congenital spastic tetraplegia 5 cases 3063 intellectual disability, X-linked, Snyder type 11 cases 79361 Inherited epidermolysis bullosa 0.8 85325 intellectual disability, X-linked, Stevenson type 4 cases 171860 intellectual disability - cataracts - 3 cases 85288 intellectual disability, X-linked, Stocco Dos 4 cases 3044 intellectual disability - dysmorphism - 4 cases Santos type hypogonadism - diabetes mellitus 85289 intellectual disability, X-linked, Vitale type 8 cases 1495 intellectual disability - hypoplastic corpus 3 cases callosum - preauricular tag 85290 intellectual disability, X-linked, Wilson type 3 cases 3051 intellectual disability - sparse hair - 6 cases 85291 intellectual disability, X-linked, Wittwer type 3 cases brachydactyly 85337 intellectual disability, X-linked, Zorick type 6 cases 166108 intellectual disability, Birk-Barel type 1 family 3454 Intellectual disability-developmental delay- 6 cases 85327 intellectual disability, X-linked - acromegaly - 2 cases contractures syndrome hyperactivity 981 Internal carotid agenesis 100 cases 163979 intellectual disability, X-linked - 7 cases 79099 Interstitial granulomatous dermatitis with 53 cases craniofacioskeletal syndrome arthritis 85280 intellectual disability, X-linked - 5 cases 137622 Intractable diarrhea - choanal atresia - eye 3 cases - dysmorphism anomalies 1568 intellectual disability, X-linked - Dandy-Walker 16 cases 209981 IRIDA syndrome 50 cases malformation - basal ganglia disease - Seizures 209943 IRVAN syndrome < 30 2958 intellectual disability, X-linked - dysmorphism 8 cases cases - cerebral atrophy 6 Isolated 3-methylcrotonyl-CoA carboxylase 2.3** 85319 intellectual disability, X-linked - epilepsy - 2 cases deficiency progressive joint contractures - dysmorphism 1048 Isolated /exencephaly 35** 85317 intellectual disability, X-linked - 3 cases - progressive 250923 Isolated aniridia 1.38 neurological deterioration 2542 Isolated anophthalmia - microphthalmia 5.3 85331 intellectual disability, X-linked - hypogonadism 4 cases 557 Isolated anorectal malformation 24 - ichthyosis - obesity - short stature 3387 Isolated anterior cervical hypertrichosis < 20 85329 intellectual disability, X-linked - hypotonia - 10 cases cases facial dysmorphism - aggressive behavior 35099 Isolated 5 85320 intellectual disability, X-linked - macrocephaly 12 cases - macro-orchidism 2343 Isolated cloverleaf skull syndrome 150 cases 2898 intellectual disability, X-linked - 2 cases 88620 Isolated congenital anosmia < 15 cases 85318 intellectual disability, X-linked - precocious 3 cases puberty - obesity 217 Isolated Dandy-Walker malformation 2.1** 3077 intellectual disability, X-linked - psychosis - 6 cases 2345 Isolated Klippel-Feil syndrome 2 macroorchidism 718 Isolated Pierre Robin syndrome 5** 3052 intellectual disability, X-linked - seizures - 4 cases 35098 Isolated plagiocephaly 10 psoriasis 35093 Isolated scaphocephaly 20 85273 intellectual disability, X-linked, Abidi type 8 cases 823 Isolated 18.6** 85276 intellectual disability, X-linked, Armfield type 6 cases 3366 Isolated 6.7 85277 intellectual disability, X-linked, Cantagrel type 9 cases 2306 Isotretinoin-like syndrome 6 cases 163961 intellectual disability, X-linked, Kroes type 3 cases 33 1 85283 intellectual disability, X-linked, Miles- 4 cases Carpenter type 2307 IVIC syndrome 4 families 85322 intellectual disability, X-linked, Pai type 1 family 1540 Jackson-Weiss syndrome 2 families 85285 intellectual disability, X-linked, Schimke type 4 cases 2308 150 cases 1873 Jalili syndrome 49 cases

* Lifetime prevalence ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 17 Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 90647 Jervell and Lange-Nielsen syndrome 0.3 389 Langerhans cell histiocytosis 2 2315 Johanson-Blizzard syndrome 23 cases 626 Large congenital melanocytic nevus 2 475 1 633 0.2 140874 Joubert syndrome and related disorders 1.1** 220465 Laron syndrome with immunodeficiency < 10 cases 1454 Joubert syndrome with hepatic defect 8 cases 2375 Laryngeal abductor paralysis - intellectual < 20 disability cases 2754 Joubert syndrome with orofaciodigital defect 29 cases 2004 Laryngo-tracheo-esophageal cleft 7.5** 2319 Juberg-Hayward syndrome 10 cases 46059 < 5 cases 93972 Juberg-Marsidi syndrome 16 cases 650 LCAT deficiency 125 cases 305 Junctional epidermolysis bullosa 0.06 65 Leber congenital amaurosis 10 2778 Juvenile chronic recurrent multifocal > 260 osteomyelitis cases 104 Leber hereditary optic neuropathy 1.5 2028 Juvenile hyaline fibromatosis 50 cases 99718 Leber 'plus' disease 0.04 86834 Juvenile myelomonocytic leukemia 0.1 549 Legionellosis 1.5 79264 Juvenile neuronal ceroid lipofuscinosis 0.46 506 Leigh syndrome 2.75** 2801 Juvenile Paget disease 50 cases 140936 Lelis syndrome 8 cases 79076 Juvenile polyposis of infancy 11 cases 2382 Lennox-Gastaut syndrome 15 85436 Juvenile psoriatic arthritis 4.2 2658 Lenz-Majewski hyperostotic dwarfism 9 cases 85408 Juvenile rheumatoid factor-negative 8 500 LEOPARD syndrome 200 cases polyarthritis 510 Lesch-Nyhan syndrome 0.34** 85435 Juvenile rheumatoid factor-positive 4.2 1187 Lethal ataxia with deafness and optic atrophy 12 cases polyarthritis 1972 Lethal faciocardiomelic dysplasia 3 cases 26137 Juvenile temporal arteritis 20 cases 1046 Lethal hemolytic anemia - genital anomalies 2 cases 2322 3.1 2347 Lethal Kniest-like dysplasia 2 cases 168972 Kahrizi syndrome 3 cases 2371 Lethal Larsen-like syndrome < 10 cases 2324 Kaler-Garrity-Stern syndrome 2 cases 33108 Lethal multiple pterygium syndrome 28 478 3.75 families 2326 Kallmann syndrome - heart disease 8 cases 2736 Lethal -cleft palate syndrome 3 cases 33276 Kaposi's sarcoma 2.11 1832 Lethal osteosclerotic bone dysplasia 8 families 2328 Kapur-Toriello syndrome 4 cases 210144 Lethal polymalformative syndrome, Boissel 8 cases 2330 Kasabach-Merritt syndrome > 175 type cases 1423 Lethal recessive chondrodysplasia 4 cases 2332 KBG syndrome 59 cases 1662 Lethal 30 cases 480 Kearns-Sayre syndrome 2 99870 Letterer-Siwe disease 0.2 481 Kennedy disease 1.7** 2968 Leukocyte adhesion deficiency < 350 2339 Keratosis follicularis - dwarfism - cerebral 6 cases cases atrophy 99843 Leukocyte adhesion deficiency type II < 10 cases 86919 Keratosis palmaris et plantaris - < 20 99844 Leukocyte adhesion deficiency type III 17 cases cases 137639 Leukoencephalopathy - ataxia - hypodontia - 8 cases 134 Ketoacidosis due to beta-ketothiolase 60 cases hypomyelination deficiency 163684 Leukoencephalopathy - dystonia - motor 2 cases 477 KID syndrome < 100 neuropathy cases 83629 Leukoencephalopathy - metaphyseal 4 cases 482 Kimura disease 200 cases chondrodysplasia 2352 Kozlowski-Brown-Hardwick syndrome 2 cases 139444 Leukoencephalopathy with bilateral anterior 29 cases 487 1** temporal lobe cysts 2355 Kumar-Levick syndrome 1 family 137898 Leukoencephalopathy with brain stem and 39 cases involvement - high lactate 2363 Lacrimo-auriculo-dento-digital syndrome 20 cases 2386 Leukoencephalopathy-palmoplantar 4 cases 43393 Lambert-Eaton myasthenic syndrome 1 keratoderma syndrome 137871 type Decaudain-Vigouroux 9 cases

* Lifetime prevalence ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 18 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 210133 totalis - acanthosis-nigricans-like 11 cases 673 Malaria 3 lesions - abnormal hair 679 Malignant atrophic papulosis > 200 2389 Lewis-Pashayan syndrome 3 cases cases 48162 Lewis-Sumner syndrome 0.9 2023 Malignant fibrous histiocytoma 2.4 65285 Lhermitte-Duclos disease 220 cases 2215 Malignant hyperthermia - arthrogryposis - 4 cases torticollis 2390 Lichstenstein syndrome 2 cases 168811 Malignant peritoneal mesothelioma 1.5 526 Liddle syndrome 80 cases 180242 Malignant tumor of fallopian tubes 1 97231 Ligneous conjunctivitis 1.1 943 Malonic aciduria 34 cases 2369 Limb body wall complex 2** 52417 MALT lymphoma 4 263 Limb-girdle muscular dystrophy 0.8 2457 37 cases 69085 Limb-mammary syndrome 27 cases 79113 Mandibulofacial dysostosis-microcephaly 4 cases 220402 Limited cutaneous systemic sclerosis 8 syndrome 140933 Linear atrophoderma of Moulin < 30 52416 Mantle cell lymphoma 4 cases 2461 Marden-Walker syndrome < 50 50811 Lipodystrophy - intellectual disability - 3 cases cases deafness 558 20 530 Lipoid proteinosis > 280 cases 444 Marie Unna hereditary hypotrichosis > 30 families 171680 Lissencephaly due to TUBA1A mutation < 15 cases 559 Marinesco-Sjögren syndrome 200 cases 86821 Lissencephaly type 3 - familial fetal akinesia 5 cases 560 Marshall syndrome > 12 sequence families 86822 Lissencephaly type 3 - metacarpal bone 2 cases 42642 Marshall syndrome with periodic fever 41 cases dysplasia 561 Marshall-Smith syndrome 33 cases 60030 Loeys-Dietz syndrome 10 137862 Martínez-Frías syndrome 11 cases families 98292 Mastocytosis 9 5 Long chain 3-hydroxyacyl-CoA dehydrogenase 1** deficiency 2209 Maternal hyperphenylalaninemia 1.25 2621 - dwarfism - 2 cases 225 Maternally-inherited diabetes and deafness 0.1 2470 Matthew-Wood syndrome 5 cases 1824 Lowry-Wood syndrome < 10 cases 3109 Mayer-Rokitansky-Küster-Hauser syndrome 11 137631 Lung fibrosis - immunodeficiency - 46,XX 2 cases 57782 Mazabraud syndrome 54 cases gonadal dysgenesis 562 McCune-Albright syndrome 0.55 538 0.56 59306 McLeod neuroacanthocytosis syndrome 150 cases 2415 Lymphatic malformation 12.5 3097 Meacham syndrome < 15 86915 Lymphedema - atrial septal defects - facial 3 cases cases changes 564 Meckel syndrome 0.2** 86914 Lymphedema - cerebral arteriovenous anomaly 5 cases 70588 Meconium aspiration syndrome 2.44 470 Lysinuric protein intolerance 1.7** 2006 Median cleft lip/mandibule 70 cases 94061 Macrocephaly - immune deficiency - anemia 2 cases 42 Medium chain acyl-CoA dehydrogenase 12** 2427 Macrocephaly - short stature - paraplegia 2 cases deficiency 210548 Macrocephaly-autism syndrome < 40 171851 MEDNIK syndrome 4 families cases 1332 Medullary thyroid carcinoma 7 83619 Macrostomia - preauricular tags - external 9 cases ophthalmoplegia 2241 Megacystis-microcolon-intestinal 230 cases hypoperistalsis syndrome 91494 Macular coloboma - cleft palate - hallux valgus 2 cases 2478 Megalencephalic leukoencephalopathy with < 100 98969 Macular corneal dystrophy 1 subcortical cysts cases 137867 Madras motor neuron disease 154 cases 83473 - - postaxial 6 cases 163634 250 cases polydactyly - hydrocephalus 556 Malakoplakia > 700 60040 Megalencephaly-capillary malformation- 170 cases cases polymicrogyria syndrome

* Lifetime prevalence ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 19 Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 85282 MEHMO syndrome 7 cases 83642 with liver overload 3 cases 2485 Melorheostosis 300 cases 2538 Microgastria - limb reduction defect 16 cases 45360 Ménière disease 42.5 50810 - micromelia 2 cases 565 0.33** 77299 Microphthalmia - brain atrophy 3 cases 551 MERRF syndrome 0.9 139471 Microphthalmia with brain and anomalies 2 families 157801 Mesoaxial synostotic syndactyly with 2 families 1106 Microphthalmia with limb anomalies > 30 cases phalangeal reduction 2556 Microphthalmia with linear skin defects < 50 cases 50251 Mesothelioma 3.1 syndrome 2499 25 cases 83463 Microtia 13** 512 Metachromatic 0.1 139450 Microtia - eye coloboma - imperforation of the 1 family nasolacrimal duct 1240 Metaphyseal acroscyphodysplasia 4 cases 169808 Mild hemophilia A 2.8 1040 Metaphyseal anadysplasia 27 cases 169799 Mild hemophilia B 0.6 166035 Metaphyseal chondrodysplasia - retinitis 2 cases pigmentosa 531 Miller-Dieker syndrome 1** 33067 Metaphyseal chondrodysplasia, Jansen type 16 cases 3004 Mirror polydactyly - vertebral segmentation - 0.3** limbs defects 166038 Metaphyseal chondrodysplasia, Kaitila type 2 cases 1933 Mitochondrial DNA depletion syndrome, 2 cases 2635 Metatropic dysplasia 80 cases encephalomyopathic form with methylmalonic 1923 Methimazole embryofetopathy 40 cases aciduria 2169 Methylcobalamin deficiency type cblE 27 cases 2598 Mitochondrial myopathy and sideroblastic 7 cases 2170 Methylcobalamin deficiency type cblG 33 cases anemia 26 with homocystinuria > 500 298 Mitochondrial neurogastrointestinal 0.1 cases encephalomyopathy 79282 Methylmalonic acidemia with homocystinuria, 500 cases 2443 Mitochondrial oxidative phosphorylation 9 type cblC disorder due to nuclear DNA anomalies 79283 Methylmalonic acidemia with homocystinuria, 17 cases 809 Mixed disease 3.8 type cblD 71516 Mixed dystonia 3 families 79284 Methylmalonic acidemia with homocystinuria, 15 cases 45448 Miyoshi myopathy 0.26 type cblF 169805 Moderately severe hemophilia A 1.4 29 Mevalonic aciduria 30 cases 169796 Moderately severe hemophilia B 0.6 79329 MGAT2-CDG 4 cases 570 Moebius syndrome 300 cases 2506 Michels syndrome 7 cases 52368 Mohr-Tranebjaerg syndrome > 91 2510 Micro syndrome 8 cases cases 2511 Microbrachycephaly - ptosis - cleft lip 2 cases 91136 Monoclonal Ig light chain-associated Fanconi 100 cases 85172 Microcephalic osteodysplastic dysplasia, Saul- 4 cases syndrome Wilson type 2565 Mononen-Karnes-Senac syndrome 5 cases 2636 Microcephalic osteodysplastic primordial < 30 cases 1598 Monosomy 18p < 200 dwarfism types I and III cases 3433 Microcephaly - brachydactyly - kyphoscoliosis 3 cases 574 Monosomy 21 < 50 2515 Microcephaly - cardiomyopathy 3 cases cases 2521 Microcephaly - cleft palate 3 cases 48652 Monosomy 22q13 > 200 cases 137653 Microcephaly - digital anomalies - intellectual 2 cases disability 281 Monosomy 5p 4** 2172 Microcephaly - glomerulonephritis - marfanoid 2 cases 77301 Monosomy 9q22.3 30 cases habitus 2569 Moore-Federman syndrome 6 cases 137658 Microcephaly - intellectual disability - 3 cases 1052 Mosaic variegated aneuploidy syndrome 41 cases phalangeal and neurological anomalies 3347 Mounier-Kühn syndrome > 300 171703 Microcephaly - polymicrogyria - corpus 4 cases cases callosum agenesis 2152 Mowat-Wilson syndrome < 200 2519 Microcephaly - seizures - intellectual disability 2 cases cases - heart disease 2573 0.33

* Lifetime prevalence ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 20 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 79323 MPDU1-CDG 7 cases 69087 Naegeli-Franceschetti-Jadassohn syndrome 0.035 79319 MPI-CDG 20 cases 2614 Nail-patella syndrome 2 576 Mucolipidosis type 2 0.15** 2613 Nail-patella-like renal disease 3 cases 578 Mucolipidosis type 4 > 100 627 Nance-Horan syndrome 50 cases families 579 type 1 1** 2073 Narcolepsy-cataplexy 25 580 Mucopolysaccharidosis type 2 0.6** 644 NARP syndrome 8.3 581 Mucopolysaccharidosis type 3 0.87** 2399 Nasopalpebral lipoma - coloboma - telecanthus < 30 cases 582 Mucopolysaccharidosis type 4 0.4 2770 Nasu-Hakola disease 0.15 583 Mucopolysaccharidosis type 6 0.16** 607 1 584 Mucopolysaccharidosis type 7 0.01 79118 Neonatal diabetes - congenital hypothyroidism 2 cases 53271 1.8** - congenital glaucoma - hepatic fibrosis - 587 Muir-Torre syndrome > 205 polycystic kidneys cases 224 Neonatal diabetes mellitus 0.2 2576 MULIBREY nanism 115 cases 94058 Neovascular glaucoma 24.4 1655 Mullerian derivatives - lymphangiectasia - 3 cases 223 Nephrogenic 0.15 polydactyly 2668 Nephropathy - deafness - hyperparathyroidism 5 cases 139436 Multicentric reticulohistiocytosis < 200 cases 2669 Nephrosis - deafness - urinary tract - digital 5 cases malformations 3282 Multifocal atrial tachycardia 100 cases 634 0.5 641 Multifocal motor neuropathy with conduction 1.5 block 2671 Neu-Laxova syndrome 60 cases 652 Multiple endocrine neoplasia type 1 11 2901 Neuralgic amyotrophy 3.3 653 Multiple endocrine neoplasia type 2 2.9 2675 Neuroaxonal dystrophy - renal tubular acidosis 3 cases 251 Multiple epiphyseal dysplasia 5 635 Neuroblastoma 11.3 166024 Multiple epiphyseal dysplasia, Al-Gazali type 4 cases 2481 Neurocutaneous melanocytosis 1.25 29073 Multiple myeloma 11.5 88639 Neurodegeneration due to 3-hydroxyisobutyryl- 4 cases CoA hydrolase deficiency 321 Multiple 2 385 Neurodegeneration with brain iron 2 3151 - ichthyosis - factor VIII 2 cases accumulation deficiency 33445 Neuroectodermal melanolysosomal disease 30 cases 585 Multiple sulfatase deficiency 50 cases 2316 Neuroectodermal syndrome, Johnson type < 30 3237 Multiple synostoses syndrome 20 cases families 2676 Neuroectodermal-endocrine syndrome 4 cases 102 Multiple system atrophy 3.7 636 Neurofibromatosis type 1 23 2579 Muscular atrophy - ataxia - retinitis 10 cases pigmentosa - diabetes mellitus 637 Neurofibromatosis type 2 1.7 659 Mutilating with 55 cases 94093 Neuroleptic malignant syndrome 15 periorificial keratotic plaques 163746 Neurologic Waardenburg-Shah syndrome < 30 589 Myasthenia gravis 20 cases 268249 Mycophenolate mofetil embryopathy 25 cases 35705 Neurometabolic disorder due to serine < 30 deficiency cases 52688 Myelodysplastic syndromes 5 71211 Neuromyelitis optica 1.5 824 Myelofibrosis with myeloid metaplasia 1 139512 Neuropathy with hearing impairment 1 family 2588 Myhre syndrome 16 cases 165 Neutral lipid storage disease 50 cases 210566 Myoclonic dystonia 15 < 20 cases 2691 Nevo syndrome 10 cases 86909 Myoclonic epilepsy of infancy 106 cases 77292 Niemann-Pick disease type A 0.25** 2589 Myoclonus - cerebellar ataxia - deafness 4 cases 77293 Niemann-Pick disease type B 0.4 88635 Myopathy due to calsequestrin and SERCA1 4 cases 646 Niemann-Pick disease type C 1 protein overload 647 Nijmegen breakage syndrome 1** 2608 N syndrome 3 cases

* Lifetime prevalence ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 21 Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 467 Non-acquired combined pituitary hormone 29 85410 Oligoarticular juvenile arthritis 20.5 deficiency 75378 Oligocone trichromacy 14 cases 2337 Non-epidermolytic palmoplantar keratoderma 2.5 2733 Omodysplasia 30 cases 217071 Non-familial 42 660 Omphalocele 11.7 209989 Non-papillary transitional cell carcinoma of 37 661 Ondine syndrome 0.5** the bladder 2739 Onycho-tricho-dysplasia - neutropenia 5 cases 90031 Non-spherocytic hemolytic anemia due to 17 families 2746 25 cases 648 50 52994 Orbital leiomyoma 16 cases 649 300 cases 664 transcarbamylase deficiency 1.4** 75327 North Carolina macular dystrophy 2 families 2750 Orofaciodigital syndrome type 1 1.2** 77304 Not NOTCH3-related small vessel disease of 2 cases 2752 Orofaciodigital syndrome type 3 3 cases the brain 2753 Orofaciodigital syndrome type 4 16 cases 3032 NPHP3-related Meckel-like syndrome 10 cases 2919 Orofaciodigital syndrome type 5 4 cases 88643 Obesity - colitis - hypothyroidism - cardiac 2 cases 2755 Orofaciodigital syndrome type 8 2 families hypertrophy - developmental delay 73230 Ossification anomalies - psychomotor 2 cases 66628 Obesity due to congenital leptin deficiency < 30 development delay cases 2764 Osteochondritis dissecans 35 71529 Obesity due to melanocortin 4 receptor 50 deficiency 2653 Osteochondrodysplatic nanism - deafness - 2 cases 71528 Obesity due to prohormone convertase I 16 cases deficiency 2763 Osteocraniostenosis < 20 cases 71526 Obesity due to pro-opiomelanocortin 7 cases 2484 Osteodysplasty, Melnick-Needles type > 50 cases deficiency 666 Osteogenesis imperfecta 7 198 > 20 cases 2773 Osteogenesis imperfecta - retinopathy - 2 cases 2704 Ochoa syndrome > 100 seizures - intellectual disability cases 2780 Osteopathia striata - cranial sclerosis 100 cases 1000 with late-onset sensorineural 7 cases 91133 Osteopenia - myopia - hearing loss - 2 cases deafness intellectual disability - facial dysmorphism 194 Ocular coloboma 8** 178389 Osteopetrosis - hypogammaglobulinemia 8 cases 1125 Ocular motor apraxia, Cogan type 50 cases 2785 Osteopetrosis with renal tubular acidosis < 100 1647 Oculocerebrocutaneous syndrome 40 cases cases 2707 Oculocerebrofacial syndrome, Kaufman type 9 cases 2786 Osteoporosis - oculocutaneous 3 cases hypopigmentation syndrome 534 Oculocerebrorenal syndrome 0.3** 2788 Osteoporosis - pseudoglioma 0.05 55 5.9 668 Osteosarcoma 5 2709 Oculodental syndrome, Rutherfurd type 1 family 178377 - developmental delay - 13 cases 2710 Oculodentodigital dysplasia 243 cases craniosynostosis 1876 Oculogastrointestinal muscular dystrophy 1 family 75325 Osteosclerosis - ichthyosis - premature ovarian 3 cases 2713 Oculoosteocutaneous syndrome 3 cases failure 77302 Oculo-oto-facial dysplasia 4 cases 669 Otopalatodigital syndrome 30 cases 2714 Oculo-palato-cerebral syndrome 5 cases 1427 Otospondylomegaepiphyseal dysplasia < 30 cases 270 Oculopharyngeal muscular dystrophy 1 137634 Overgrowth - macrocephaly - facial 6 families dysmorphism 2718 Oculotrichodysplasia 2 cases 3203 Overhydrated hereditary stomatocytosis 20 77295 Odontoleukodystrophy 4 cases families 1811 Odontomicronychial dysplasia 5 cases 36355 P2Y12 defect 5 cases 2721 Odonto-onycho-dermal dysplasia < 15 cases 2796 Pachydermoperiostosis 204 cases 2723 Odontotrichomelic syndrome 4 cases 94084 - epilepsy - intellectual disability - < 10 69082 Odonto-tricho-ungual-digito-palmar syndrome 21 cases dysmorphism cases 75382 50 cases 2309 1000 cases 2729 Okamoto syndrome 2 cases

* Lifetime prevalence ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 22 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 1952 Pacman dysplasia < 10 2849 Perlman syndrome 30 cases cases 226292 Permanent congenital hypothyroidism 33.3** 991 PAGOD syndrome 6 cases 65288 Permanent neonatal diabetes mellitus - 4 cases 1993 Pai syndrome 37 cases pancreatic and cerebellar agenesis 672 Pallister-Hall syndrome 100 cases 2855 Perrault syndrome 61 cases 85112 Palmoplantar keratoderma - XX sex reversal - 5 cases 178509 Perry syndrome 53 cases predisposition to squamous cell carcinoma 97341 Persistent placoid maculopathy 5 cases 140966 Palmoplantar keratoderma, Nagashima type 20 cases 709 Peters-plus syndrome < 80 cases 2202 Palmoplantar keratoderma-deafness syndrome < 10 2869 Peutz-Jeghers syndrome 2.2** families 710 1 2198 Palmoplantar keratoderma-esophageal < 10 carcinoma syndrome families 42775 PHACE syndrome 100 cases 2201 Palmoplantar keratoderma-spastic paralysis 25 cases 716 6 syndrome 2880 Phosphoenolpyruvate carboxykinase deficiency < 10 736 Palmoplantar porokeratosis of Mantoux < 10 cases cases 217074 Pancreatic carcinoma 12 3222 Phosphoribosylpyrophosphate synthetase < 30 superactivity families 2255 Pancreatic hypoplasia - diabetes - congenital < 10 cases heart disease 670 PIBIDS syndrome 20 cases 677 Pancreatoblastoma 60 cases 2888 Pierre Robin syndrome - faciodigital anomaly 2 cases 678 Papillon-Lefèvre syndrome 0.25 2670 Pierson syndrome 22 cases 63455 Paraneoplastic > 60 cases 2890 - onychodysplasia 1 family 2823 Paraplegia - brachydactyly - cone-shaped 5 cases 2892 Pilodental dysplasia - refractive errors 2 cases 2896 Pitt-Hopkins syndrome 50 cases 2824 Paraplegia - intellectual disability - 4 cases 2897 Pityriasis rubra pilaris 48 cases hyperkeratosis 54028 Plummer-Vinson syndrome 25 cases 143 Parathyroid carcinoma 0.28 79318 PMM2-CDG 0.64** 2825 PARC syndrome 2 cases 2911 1.1** 60015 Parietal foramina 5 75790 Pollitt syndrome 10 cases 46348 Paroxysmal extreme pain disorder 4 families 767 Polyarteritis nodosa 3.1 157835 Paroxysmal hemicrania 2 2795 Polycystic - urethral sphincter 33 cases 447 Paroxysmal nocturnal hemoglobinuria 0.3 dysfunction 79087 Partial acquired lipodystrophy > 250 729 vera 30 cases 732 Polymyositis 7.1 1330 Partial atrioventricular canal 20 171848 - hearing loss - ataxia - 3 cases 1646 Partial Y deletion 40 retinitis pigmentosa - cataract 2805 Partial pancreatic agenesis 50 cases 2934 Polysyndactyly - cardiac malformation 6 cases 94083 Partington syndrome 2 families 269229 Pontine tegmental cap dysplasia 22 cases 706 Patent arterial duct 50 2254 Pontocerebellar hypoplasia type 1 40 cases 699 Pearson syndrome 60 cases 2524 Pontocerebellar hypoplasia type 2 > 81 702 Pelizaeus-Merzbacher disease 0.25 families 280219 Pelizaeus-Merzbacher disease, classic form 0.17 166063 Pontocerebellar hypoplasia type 4 10 families 280210 Pelizaeus-Merzbacher disease, connatal form 0.03 166068 Pontocerebellar hypoplasia type 5 3 cases 280224 Pelizaeus-Merzbacher disease, transitional 0.03 form 166073 Pontocerebellar hypoplasia type 6 < 10 cases 83628 PELVIS syndrome 11 cases 166286 Porokeratotic eccrine ostial and dermal duct 25 cases nevus 93333 Pelviscapular dysplasia 4 cases 101330 Porphyria cutanea tarda 4 704 Pemphigus vulgaris 18 246 Postaxial acrofacial dysostosis < 30 cases 139426 Perioral myoclonia with absences < 10 cases 2064 Posterior fusion of lumbosacral vertebrae - 3 cases blepharoptosis 97927 Peripheral resistance to thyroid hormones 2.5

* Lifetime prevalence ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 23 Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 70568 Posttransplant lymphoproliferative disease 26.2 2999 Ptosis - - ectopic pupils 1 family 52022 Potocki-Shaffer syndrome 23 cases 182090 Pulmonary arterial hypertension 1.5 739 Prader-Willi syndrome 2.8** 210136 Pulmonary fibrosis - hepatic hyperplasia - 4 cases bone marrow hypoplasia 186 Primary biliary cirrhosis 13.5 69084 Pure hair and nail ectodermal dysplasia < 20 cases 244 Primary ciliary dyskinesia 5 763 Pycnodysostosis 0.13 226295 Primary congenital hypothyroidism 37.5 3003 Pyknoachondrogenesis 5 cases 171901 Primary cutaneous T-cell lymphoma 24 3005 Pyle disease < 30 cases 90026 Primary erythermalgia 30 families 69126 Pyogenic arthritis - pyoderma gangrenosum 34 cases - acne 93598 Primary hyperoxaluria type 1 0.2 3006 Pyridoxine-dependent epilepsy 0.2** 90023 syndrome due to 4 cases p14 deficiency 2394 Pyruvate dehydrogenase E3 deficiency 20 cases 35689 Primary lateral sclerosis 1.5 3010 Qazi-Markouizos syndrome 3 cases 238606 Primary orthostatic 391 cases 70475 Radiation proctitis 35 171 Primary sclerosing cholangitis 11 71289 Radio-ulnar synostosis - amegakaryocytic < 20 thrombocytopenia cases 2959 Progeria - short stature - pigmented nevi < 10 cases 3021 RAPADILINO syndrome < 20 cases 75373 Progressive bifocal chorioretinal atrophy 2 families 71517 Rapid-onset dystonia-parkinsonism > 10 families 56965 Progressive bulbar paralysis of childhood < 40 cases 3022 Rapp-Hodgkin syndrome 72 cases 139447 Progressive cavitating leukoencephalopathy 19 cases 68411 Rare bone tumor 10 100070 Progressive non-fluent aphasia 2.5 213500 Rare ovarian cancer 30 2062 Progressive non-infectious anterior vertebral 90 cases 1929 Rasmussen subacute encephalitis > 100 fusion cases 683 Progressive supranuclear palsy 6 1115 Recessive aplasia cutis congenita of limbs 6 cases 240103 Progressive supranuclear palsy - corticobasal 0.6 139380 Recessive hereditary < 100 syndrome type 2 cases 742 Prolidase deficiency 50 cases 461 Recessive X-linked ichthyosis 16.6 35 0.002 64740 Recurrent acute pancreatitis 10 744 200 cases 97239 Reducing body myopathy 4 families 606 Proximal myotonic myopathy 1 773 0.1 70 Proximal spinal muscular atrophy 3 83450 139 cases 83330 Proximal spinal muscular atrophy type 1 1.25 1475 Renal coloboma syndrome 180 cases 83418 Proximal spinal muscular atrophy type 2 1.42 93975 Renier-Gabreels-Jasper syndrome 5 cases 83419 Proximal spinal muscular atrophy type 3 0.26 3242 Renpenning syndrome 64 cases 83420 Proximal spinal muscular atrophy type 4 0.32 99832 Resistance to thyrotropin-releasing hormone 2 cases syndrome 750 Pseudoachondroplasia 1.6 75326 Retinal arterial tortuosity 100 cases 85174 Pseudodiastrophic dysplasia 10 cases 1574 Retinal degeneration - nanophthalmos - 7 cases 756 type 1 70 cases glaucoma 757 Pseudohypoaldosteronism type 2 80 3018 Retinal ischemic syndrome - digestive tract 3 cases families small vessel hyalinosis - diffuse cerebral 2985 Pseudoprogeria syndrome 2 cases calcifications 758 2.5 791 Retinitis pigmentosa 30 2981 Pseudo- < 10 3085 Retinitis pigmentosa - intellectual disability - 2 families cases deafness - hypogenitalism 88618 Psychomotor retardation due to 3 cases 790 Retinoblastoma 1.05 S-adenosylhomocysteine hydrolase deficiency 3087 Retinohepatoendocrinologic syndrome 7 cases 2988 Pterygium colli - intellectual disability - 2 cases 90050 Retinopathy of prematurity 12.2** digital anomalies 49041 Retroperitoneal fibrosis 1.38

* Lifetime prevalence ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 24 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 778 Rett syndrome 4 807 Sebastian syndrome < 10 families 69077 Rhabdoid tumor 500 cases 168606 Seborrhea-like dermatitis with psoriasiform 44 cases 177 Rhizomelic chondrodysplasia punctata 1 elements 59315 Rhombencephalosynapsis 50 cases 808 100 cases 140976 RHYNS syndrome 4 cases 85445 Secondary amyloidosis 17 97229 Riboflavin transporter deficiency 80 cases 67039 Segmental odontomaxillary dysplasia 32 cases 83312 Rickettsialpox > 800 79156 Seizures - intellectual disability due to 3 cases cases hydroxylysinuria 1437 Ring 34 cases 3156 Senior-Loken syndrome 0.1 1438 Ring < 20 66633 Sensorineural hearing loss - early graying - 3 cases cases essential tremor 1440 Ring chromosome 14 50 cases 139466 SERKAL syndrome 3 cases 1441 Ring 14 cases 85165 Severe achondroplasia - developmental delay - 4 cases 1442 Ring 70 cases acanthosis nigricans 1444 Ring chromosome 20 > 50 cases 277 Severe combined immunodeficiency due to 0.22 91481 Ring dermoid of cornea < 30 cases adenosine deaminase deficiency 3103 Roberts syndrome < 150 42738 Severe congenital neutropenia 0.4** cases 169802 Severe hemophilia A 2.8 97360 Robinow syndrome 200 cases 169793 Severe hemophilia B 0.8 3105 Robinow-like syndrome 2 cases 94066 Severe intellectual disability - epilepsy - anal 2 cases 101016 Romano-Ward syndrome 40 anomalies - distal phalangeal hypoplasia 2909 Rothmund-Thomson syndrome 300 cases 209370 Severe neonatal-onset encephalopathy with < 30 microcephaly cases 83616 Rubella panencephalitis > 20 cases 3078 Severe X-linked intellectual disability, 7 cases Gustavson type 783 Rubinstein-Taybi syndrome 0.6** 3162 Sézary syndrome 0.18 3118 Rudiger syndrome 2 cases 104008 Short bowel syndrome 3.4 794 Saethre-Chotzen syndrome 3** 66518 Short fifth metacarpals - insulin resistance 6 cases 3128 Sakati-Nyhan syndrome < 5 cases 2649 Short stature - intellectual disability - eye 3 cases 140969 Saldino-Mainzer syndrome 10 cases anomalies - cleft lip/palate 79269 Sanfilippo syndrome type A 0.3 85442 Short stature - pituitary and cerebellar defects 1 family 797 Sarcoidosis 15 - small sella turcica 3129 2 2865 Short stature - webbed - heart disease 4 cases 3132 Say-Barber-Miller syndrome 2 cases 629 Short stature due to growth hormone 3 cases qualitative anomaly 1003 Scalp defects - postaxial polydactyly 2 cases 2867 Short stature, Brussels type 2 cases 2036 Scalp-ear-nipple syndrome 30 cases 3163 SHORT syndrome 30 cases 3134 SCARF syndrome 2 cases 2462 Shprintzen-Goldberg syndrome < 50 93474 Scheie syndrome 0.2 cases 2353 Schilbach-Rott syndrome 13 cases 811 Shwachman-Diamond syndrome 0.55** 1830 Schimke immuno-osseous dysplasia 50 cases 232 Sickle cell anemia 15 798 Schinzel-Giedion syndrome 34 cases 3167 Siegler-Brewer-Carey syndrome 2 cases 799 1.5** 71276 Silent sinus syndrome 98 cases 37748 Schnitzler syndrome 150 cases 3168 Sillence syndrome 5 cases 50944 Schöpf-Schulz-Passarge syndrome 19 cases 813 Silver-Russell syndrome 0.8** 800 Schwartz-Jampel syndrome 100 cases 373 Simpson-Golabi-Behmel syndrome > 100 185 Scimitar syndrome 2** cases 801 Scleroderma 42 79022 Simpson-Golabi-Behmel syndrome type 2 4 cases 158029 Sea-blue histiocytosis 60 cases 85191 Singleton-Merten dysplasia < 10 cases

* Lifetime prevalence ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 25 Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 3169 0.71** 71271 Split hand - split foot - deafness 22 cases 2882 Sitosterolemia 40 cases 2437 Split hand - urinary anomalies - spina bifida 3 cases 816 Sjögren-Larsson syndrome 0.4** 2440 Split hand-split foot malformation 5.4** 1436 Skeletal dysplasia - intellectual disability 2 families 3275 Spondylocarpotarsal synostosis 24 cases 70573 Small cell lung cancer 11.2 94095 Spondylocostal dysostosis - anal and 4 cases genitourinary malformations 93974 Smith-Fineman-Myers syndrome 11 families 1855 Spondyloenchondrodysplasia 36 cases 818 Smith-Lemli-Opitz syndrome 3.7** 168451 Spondyloepimetaphyseal dysplasia - abnormal 2 cases dentition 819 Smith-Magenis syndrome 5.3 168443 Spondyloepimetaphyseal dysplasia - 5 cases 91496 Snowflake vitreoretinal degeneration < 50 hypotrichosis cases 93346 Spondyloepimetaphyseal dysplasia congenita, < 30 cases 3394 Soft tissue sarcoma 23.7 Strudwick type 97230 Solar urticaria 36 171866 Spondyloepimetaphyseal dysplasia, aggrecan 3 cases 821 0.3** type 79132 Sparse hair - short stature - skin anomalies 4 cases 168448 Spondyloepimetaphyseal dysplasia, Bieganski 3 cases 2818 Spastic paraplegia - glaucoma - intellectual 2 families type disability 168454 Spondyloepimetaphyseal dysplasia, Geneviève 2 cases 2820 Spastic paraplegia - nephritis - deafness 4 cases type 2826 Spastic paraplegia - precocious puberty 2 cases 93356 Spondyloepimetaphyseal dysplasia, Missouri 14 cases type 99015 Spastic paraplegia type 2 < 100 cases 93282 Spondyloepimetaphyseal dysplasia, Pakistani 17 cases type 3011 Spastic tetraplegia - retinitis pigmentosa - 2 cases intellectual disability 93352 Spondyloepimetaphyseal dysplasia, Shohat 4 cases type 3175 - intellectual disability - X-linked 6 cases epilepsy 94068 Spondyloepiphyseal dysplasia congenita 1** 73245 Spinal muscular atrophy - Dandy-Walker 2 cases 163665 Spondyloepiphyseal dysplasia tarda, Kohn type 3 cases malformation - cataracts 163673 Spondyloepiphyseal dysplasia, Byers type 4 cases 98755 Spinocerebellar ataxia type 1 1.5 163654 Spondyloepiphyseal dysplasia, Cantu type 4 cases 98762 Spinocerebellar ataxia type 12 40 93283 Spondyloepiphyseal dysplasia, Kimberley type 1 family families 163668 Spondyloepiphyseal dysplasia, MacDermot type 4 cases 98768 Spinocerebellar ataxia type 13 < 20 163649 Spondyloepiphyseal dysplasia, Nishimura type 4 cases cases 93280 Spondyloepiphyseal dysplasia, Omani type < 20 98763 Spinocerebellar ataxia type 14 > 20 cases families 163662 Spondyloepiphyseal dysplasia, Reardon type 1 family 98770 Spinocerebellar ataxia type 16 < 80 cases 254 Spondylometaphyseal dysplasia 1 98759 Spinocerebellar ataxia type 17 < 100 families 168552 Spondylometaphyseal dysplasia - bowed 2 cases forearms - facial dysmorphism 98771 Spinocerebellar ataxia type 18 26 cases 85167 Spondylometaphyseal dysplasia - cone-rod 8 cases 98772 Spinocerebellar ataxia type 19/22 12 cases dystrophy 98756 Spinocerebellar ataxia type 2 1.5 50816 Spondylometaphyseal dysplasia with combined 4 cases 101110 Spinocerebellar ataxia type 20 < 20 cases immunodeficiency 98773 Spinocerebellar ataxia type 21 < 20 168555 Spondylometaphyseal dysplasia, A4 type 2 cases cases 93315 Spondylometaphyseal dysplasia, 'corner < 30 cases 101108 Spinocerebellar ataxia type 23 4 families fracture' type 101111 Spinocerebellar ataxia type 25 < 10 cases 168544 Spondylometaphyseal dysplasia, Golden type 3 cases 98764 Spinocerebellar ataxia type 27 < 30 cases 93316 Spondylometaphyseal dysplasia, Schmidt type 6 cases 208513 Spinocerebellar ataxia type 29 < 50 93317 Spondylometaphyseal dysplasia, Sedaghatian 9 cases cases type 98757 Spinocerebellar ataxia type 3 1.5 29822 Spontaneous periodic hypothermia > 50 211017 Spinocerebellar ataxia type 30 6 cases cases

* Lifetime prevalence ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 26 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 826 Sporotrichosis 55 cases 85414 Systemic-onset juvenile idiopathic arthritis 5 67037 Squamous cell carcinoma of head and neck 49 3287 Takayasu arteritis 0.6 140917 Stapes ankylosis with broad and toes 6 families 50809 Talo-patello-scaphoid osteolysis 2 cases 827 Stargardt disease 10 31150 Tangier disease 100 cases 273 Steinert 4.5 2731 Taurodontia - absent teeth - sparse hair < 15 cases 210115 Sterile multifocal osteomyelitis with periostitis 10 cases and pustulosis 845 Tay-Sachs disease 0.3** 2017 2** 86872 T-cell large granular leukemia 1 3194 Stern-Lubinsky-Durrie syndrome 7 cases 3291 Teebi-Shaltout syndrome 2 cases 3196 Steroid dehydrogenase deficiency - dental 1 family 1777 Temtamy syndrome 3 cases anomalies 88630 Terminal osseous dysplasia - pigmentary 18 cases 828 Stickler syndrome 0.5** defects 3198 Stiff person syndrome 0.1 842 Testicular seminomatous germ cell tumor 46.01* 3199 Stimmler syndrome 2 cases 3303 Tetralogy of Fallot 29.3** 3200 Stoll-Alembik-Finck syndrome 2 cases 3312 Thalidomide embryopathy 0.77** 3204 Stormorken-Sjaastad-Langslet syndrome 6 cases 2655 3.5** 137599 Stromal keratitis 16 49827 Thiamine-responsive < 80 syndrome cases 3205 Sturge-Weber syndrome 0.4** 2405 Thickened earlobes - conductive deafness 2 families 166277 Suarez-Stickler syndrome 3 cases 614 Thomsen and Becker disease 5 48377 Subcorneal pustular dermatosis 200 cases 3317 Thoracolaryngopelvic dysplasia < 10 936 Succinic acidemia 50 cases cases 832 Succinyl-CoA:3-ketoacid CoA transferase 33 cases 3320 Thrombocytopenia - absent 0.2** deficiency 3323 Thrombocytopenia - Robin sequence 2 cases 168593 Sudden infant death - dysgenesis of the testes 21 cases 54057 Thrombotic thrombocytopenic purpura 25.5 3210 Summitt syndrome 3 cases 1078 Thumb stiffness - brachydactyly - intellectual 6 cases 455 Superficial epidermolytic ichthyosis < 20 disability cases 3326 Thymic-renal-anal-lung dysplasia 3 cases 46485 Superficial pemphigus 1.2 99867 Thymoma 1.22* 3193 Supravalvular 12.5 3327 Thyrocerebrorenal syndrome 2 cases 838 Susac syndrome 304 cases 95712 Thyroid ectopia 14.2 3243 Sweet syndrome > 100 cases 95719 Thyroid hemiagenesis 25 1314 Symmetrical thalamic calcifications 29 cases 95720 Thyroid hypoplasia 3.5 3246 Symphalangism with multiple anomalies of 6 cases 3329 Tibial aplasia - ectrodactyly 0.1 and feet 93322 Tibial hemimelia 0.1 140952 Syndactyly - telecanthus - anogenital and 6 cases 609 Tibial muscular dystrophy 6 renal malformations 42665 Tietz syndrome 1 family 93402 Syndactyly type 1 25 3336 Tomé-Brunet-Fardeau syndrome 4 cases 93405 Syndactyly type 4 4 cases 3460 Torg-Winchester syndrome 12 cases 178364 Syndromic microphthalmia type 5 20 cases 3338 Toriello-Carey syndrome > 60 85274 Syndromic X-linked intellectual disability 7 10 cases cases 85279 Syndromic X-linked intellectual disability due < 10 3339 Toriello-Lacassie-Droste syndrome 10 cases to JARID1C mutation families 3341 Torticollis - keloids - - renal 7 cases 3262 Syngnathia multiple anomalies 2 cases dysplasia 3280 8.4 857 Townes-Brocks syndrome 0.4** 188 Systemic capillary leak syndrome < 150 95455 Toxic epidermal necrolysis 0.2 cases 3346 Tracheal agenesis 2** 2467 Systemic mastocytosis 3.3 101028 Transaldolase deficiency 7 cases 90291 Systemic sclerosis 25

* Lifetime prevalence ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 27 Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 56970 Transmissible spongiform encephalopathy 0.3 3408 Upington disease 1 family 216675 Transposition of the great arteries 32.5 210128 Urocanic aciduria 4 cases 861 Treacher-Collins syndrome 2 886 4.8 3349 Treft-Sanborn-Carey syndrome 23 cases 231169 Usher syndrome type 1 1.5 3351 Trichodental syndrome < 5 231178 Usher syndrome type 2 2.2 families 231183 Usher syndrome type 3 0.1 3352 Tricho-dento-osseous syndrome > 30 1473 Uveal coloboma - cleft lip and palate - 12 cases cases intellectual disability 79129 Trichodysplasia - amelogenesis imperfecta 1 family 98715 Uveitis 38 3362 Trichomegaly - cataract - hereditary 2 cases 178338 UV-sensitive syndrome 7 cases spherocytosis 3412 VACTERL with hydrocephalus < 10 3363 Trichomegaly - retina pigmentary degeneration 11 cases families - dwarfism 3417 Van den Bosch syndrome 1 family 3355 Tricho-odonto-onychial dysplasia 4 cases 888 1.7 1264 Tricho-retino-dento-digital syndrome 9 cases 52759 Vasculitis 6.3 77258 Trichorhinophalangeal syndrome type 1 and 3 > 100 cases 70476 Vernal keratoconjunctivitis 21 1209 Tricuspid atresia 5.2** 1493 8 cases 3368 Trigonocephaly - bifid nose - acral anomalies 2 cases 73246 Visceral neuropathy - brain anomalies - facial 2 cases dysmorphism - developmental delay 3365 Trigonocephaly - broad thumbs 2 cases 28 Vitamin B12-responsive methylmalonic 192 cases 3369 Trigonocephaly - short stature - developmental 3 cases acidemia delay 79310 Vitamin B12-responsive methylmalonic 60 cases 868 Triose phosphate-isomerase deficiency < 50 acidemia type cblA cases 892 Von Hippel-Lindau disease 1.1 2947 Triphalangeal thumbs - brachyectrodactyly 4 families 903 Von Willebrand disease 12.5 869 Triple A syndrome < 100 cases 83453 Vulvovaginal gingival syndrome > 380 cases 171929 Trisomy 10p 50 cases 2804 W syndrome 6 cases 1699 Trisomy 12p 2** 3440 2.4 3378 Trisomy 13 3.7** 897 Waardenburg-Shah syndrome 50 cases 3380 Trisomy 18 8.6** 899 Walker-Warburg syndrome 1.65** 1752 Trisomy 8q > 30 cases 3447 30 cases 3375 Trisomy X 42.5 3448 Weaver-Williams syndrome > 30 88629 Tritanopia 4.8 cases 3389 Tuberculosis 20 3449 Weill-Marchesani syndrome 1 805 Tuberous sclerosis 8.8 901 Wells syndrome 80 cases 73224 Tubular renal disease - cardiomyopathy 2 cases 902 0.45 1063 Tufted angioma > 200 3451 West syndrome 3.7** cases 83593 Western equine encephalitis > 600 881 20 cases 882 type 1 0.05 51636 WHIM syndrome 40 cases 28378 Tyrosinemia type 2 < 150 3455 Wiedemann-Rautenstrauch syndrome 25 cases cases 904 Williams syndrome 1.8** 3403 Uhl anomaly 84 cases 905 Wilson disease 6 3404 Ulbright-Hodes syndrome 3 cases 3459 Wilson-Turner syndrome > 14 52056 Ulnar/ ray defect - brachydactyly 1 family cases 3138 Ulnar-mammary syndrome < 10 906 Wiskott-Aldrich syndrome 0.1 families 1667 Wolcott-Rallison syndrome < 60 3405 Umbilical cord ulceration - intestinal atresia 15 cases cases 308 Unverricht-Lundborg disease 0.2

* Lifetime prevalence ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 28 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases

Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 280 Wolf-Hirschhorn syndrome 2** 178461 X-linked myopathy with postural muscle 1 family atrophy 3463 0.13 85334 X-linked neurodegenerative syndrome, Bertini 7 cases 1409 Woolly hair - hypotrichosis - everted lower lip 1 family type - outstanding ears 85336 X-linked neurodegenerative syndrome, Hamel 10 cases 65282 Woolly hair-palmoplantar keratoderma-dilated < 20 cases type cardiomyopathy syndrome 83648 X-linked recessive intellectual disability - 1 family 3465 Worster-Drought syndrome 3.7 macrocephaly - ciliary dysfunction 2834 Wrinkly skin syndrome < 30 54 X-linked recessive ocular albinism 0.8 cases 792 X-linked retinoschisis 5 910 0.23** 86788 X-linked severe congenital neutropenia 45 cases 3469 XK aprosencephaly < 10 cases 75563 X-linked sideroblastic anemia < 200 43 X-linked adrenoleukodystrophy 3.5 cases 47 X-linked agammaglobulinemia 0.1 2802 X-linked - ataxia 5 families 64747 X-linked Charcot-Marie-Tooth disease 1.6 100997 X-linked spastic paraplegia type 16 1 family 1497 X-linked complicated corpus callosum 11 cases 171607 X-linked spastic paraplegia type 34 24 cases dysgenesis 85297 X-linked spinocerebellar ataxia type 3 5 cases 90001 X-linked cone dysfunction syndrome with < 10 myopia families 2828 Young adult-onset Parkinsonism 15 52503 X-linked transporter deficiency > 101 97240 Zebra body myopathy < 10 cases cases 50812 Zellweger-like syndrome without peroxisomal 2 cases 1018 X-linked diffuse leiomyomatosis - Alport 0.1 anomalies syndrome 75497 X-linked Ehlers-Danlos syndrome 2 families 139583 X-linked hereditary sensory and autonomic 1 family neuropathy with deafness 89936 X-linked hypophosphatemia 5 2571 X-linked immunoneurologic disorder 5 cases 85338 X-linked intellectual disability - ataxia - apraxia 9 cases 163982 X-linked intellectual disability - spastic 9 cases quadriparesis 67045 X-linked intellectual disability with isolated 3 families growth hormone deficiency 163971 X-linked intellectual disability, Cilliers type 4 cases 163937 X-linked intellectual disability, Najm type 35 families 85326 X-linked intellectual disability, Stoll type 4 cases 163976 X-linked intellectual disability, Van Esch type 7 cases 2442 X-linked lymphoproliferative disease 0.05 1131 X-linked mandibulofacial dysostosis 7 cases 25980 X-linked myopathy with excessive autophagy 15 families

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Editor-in-chief: Ana Rath  Editor of the report : Natacha Marpillat  Visual design : Julie Christ The correct form when quoting this document is : « Prevalence of rare diseases: Bibliographic data », Orphanet Report Series, Rare Diseases collection, May 2014, Number 1 : Listed in alphabetical order of disease or group of diseases, http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

* Lifetime prevalence ** Prevalence at birth

Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 29