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Home , Barth syndrome, Biotin deficiency, FG syndrome, Hurler syndrome, Overgrowth syndrome

Genetics and Metabolics Abbreviations and Diagnosis

Abbreviation Diagnosis Provider/Specialty 22-Q Deletion Genetics 19p Partial Trisomy Syndrome Genetics 1 P3 Deletion Syndrome Genetics 16q23 Duplication Genetics Aarskog-Scott Syndrome Genetics Abnormal single testing-confirmed Genetics/High priority for scheduling Achondroplasia Genetics Acute Reactive Lymphadenopathy Genetic Metabolics Alagille Syndrome Genetics Albinism Genetics Albright-McCune Syndrome Genetics Alkaptonuria Metabolics Ambiguous Genitalia Genetics Amblyopia Genetics Amyoplasia Congenital Genetics Angelman’s Syndrome Genetics Anterior Segment Dysgenesis of Eyes Genetics Genetics Apraxia of Speech (verbal apraxia/language Genetics apraxia) Arterio Venous Malformation Genetics Arthrogryposis Genetics Ataxia Genetics Atrophy Genetics including family hx Genetics Axenfeld Syndrome Genetics Azoospermia R/O genetic cause Genetics Information gathered from https://wiki.utah.edu/confluence/pages/viewpage.action?pageId=146113859. Reviewed, edited and approved by Melissa Smith, Metabolic Clinic Coordinator, University of Utah Pediatric Genetics. Updated 05/2016.

B12 Deficiency Metabolics Metabolics BWS Beckwith-Wiedemann Syndrome Genetics Betakethiolase Deficiency Metabolics Bilateral Club Feet Genetics Bilateral Subluxated Lenses Genetics Deficiency Metabolics Malformation Genetics Brachydactyly Genetics Brain-Thyroid-Lung Syndrome Genetics Brachial Oto Renal Syndrome Genetics CFTR (counseling & family testing Genetics of 1st & 2nd degree relatives) CAL Café Au Lait (Sub group of NF) Genetics/High Priority for Scheduling

Capillary Malformation Syndrome Genetics CFD Cardiofaciocutaneous Syndrome Genetics CPT Carnitine Palmitoyle Transferase Deficiency Metabolics Capillary Malformation Genetics Cerebellar Ataxia Genetics Cerebral Metabolics Charge Syndrome Genetics Charot-Macie Tooth Disease Genetics Chiari Malformation Genetics Chromosomal Deletion Genetics Chromosome Duplication Genetics Chromosome 18 Genetics Chronic Pancreatitis Genetics OTC, ASA Citrullinemia, ALL urea cycle disorders Metabolics GG Classic Galactosemina Metabolics Cleft Palate Genetics Clotting Disorder (family history of) Genetics Cochlear Hypoplasia Genetics Information gathered from https://wiki.utah.edu/confluence/pages/viewpage.action?pageId=146113859. Reviewed, edited and approved by Melissa Smith, Metabolic Clinic Coordinator, University of Utah Pediatric Genetics. Updated 05/2016.

Collagen Disorder Genetics Collosal Dysgenesis Scoliosis Genetics Congenital Adrenal Hyperplastia Genetics Congenital Anomalies Genetics Congenital Aural Atresia Genetics Congenital Cataract Genetics CCHS Congenital Central Hypoventilation Syndrome Genetics Congenital Hamartoses Genetics Congenital Defect Genetics Congenital Musculoskeletal Deformities Genetics Congenital Neurological Anomalies Genetics Congenital Pigmentary Anomaly of Skin Genetics Congenital Reduction Deformities of Brain Genetics Congenital Renal Agenesis/Dysgenesis Genetics Congenital Vascular Hematomas Genetics Connective Tissue Disorder Genetics Cornelia De Lange Syndrome Genetics Costello Syndrome Genetics Craniosynostosis Genetics Crouzon Genetics CAPS Cryopryin Associated Periodic Syndromes Genetics Cutis Marmorata Genetics DAX 1 Genetics/Metabolics Deformity of Brain Genetics DD Developmental Delay Genetics Diastrophic Dysplasia Genetics Dissection of Carotid Artery Genetics Distal Arthorogryposis Genetics Disturbances of Aromatic Amino Acid Metabolics Dizziness Metabolics Duplication of Chromosome Genetics Dwarfism conditions (known and unknown) Metabolics Information gathered from https://wiki.utah.edu/confluence/pages/viewpage.action?pageId=146113859. Reviewed, edited and approved by Melissa Smith, Metabolic Clinic Coordinator, University of Utah Pediatric Genetics. Updated 05/2016.

Dysarthria Genetics Dyschromia Genetics Dysmorphic Features Genetics Dysplasia Metabolics Dyspraxia Genetics Dystonia Genetics Ear Anomalies Genetics Ectodermal Dysplasia Genetics EDS Ehlers Danlos Syndrome **Unconfirmed Dx Genetics only, we will only evaluate pt, obtain family/medical hx, do physical exam, and possibly genetic testing. Genetics will not manage the of EDS. Elevated Blood Cells Genetics Encephalopathy Genetics Epiphyseal Dysplasia Genetics Exotropia Genetics Eyelid Abnormality Genetics Metabolics FTT Genetics/Metabolics Familial Blistering Disorder Genetics Fanconi Anemia Genetics Fatty Acid Oxidation Metabolics Feeding difficulties Genetics FAS Fetal Alcohol Syndrome Genetics Finger Tag Genetics FGS FG Syndrome (aka Opitz Kaveggia Syndrome) Genetics Fragile X Genetics Freckles Genetics Galactosemia Metabolics GSD GAMT Deficiency Metabolics Gaucher’s Disease Metabolics

Information gathered from https://wiki.utah.edu/confluence/pages/viewpage.action?pageId=146113859. Reviewed, edited and approved by Melissa Smith, Metabolic Clinic Coordinator, University of Utah Pediatric Genetics. Updated 05/2016.

Genetic Disease carrier possibly affecting Genetics fetus (family hx of) Germine Mutation Genetics Gillespie Syndrome Genetics Glaucoma Genetics Glucose Intolerance Metabolics Glucose 6 Phosphatase Deficiency Metabolics GA1 Glutaric Acidemia/Aciduria Metabolics Glycogenosis Metabolics Glycogen Storage Disease Metabolics Genetics Gorlin Syndrome Genetics Hemangioma Genetics Hemangiopericytoma Genetics Hemihypertrophy/Hemihyperplasia Genetics Heptatomegaly Metabolics Hereditary Congenital Hearing Deficit Genetics Hereditary Fructose Intolerance Metabolics Hereditary Metabolic Myopathy Metabolics HNPP Hereditary Neuropathy to Pressure Palsies Genetics **Only confirmed dx not R/O Holoprosencephlay Genetics Homocystinuria Metabolics Huntington’s Chorea Genetics Huntington’s Disease Genetics Hurler’s Syndrome Genetics Hydrocephalus Genetics Hydronephrosis Genetics Hyperammonemia Metabolics Hypermobility of Joints Genetics Hyperphe Metabolics Genetics Hyperuricemia Metabolics Information gathered from https://wiki.utah.edu/confluence/pages/viewpage.action?pageId=146113859. Reviewed, edited and approved by Melissa Smith, Metabolic Clinic Coordinator, University of Utah Pediatric Genetics. Updated 05/2016.

Hypochondroplasia Metabolics Hypogammaglobulinaemia Genetics Hypoglycemia Metabolics Hypopigmented Skin Lesion Genetics Hypothyroidism Genetics Genetics Idiopathic Hypogonadism Genetics IP Genetics Infantile Neuronaxomel Dyst Genetics IVA Isovaleric Acidemia Metabolics Joint Hypersentensibility (multiple site) Genetics Joubert’s Syndrome Genetics Juvenile Idiopathic Scoliosis Genetics Kabuki Syndrome Genetics Kallman’s Syndrome Genetics Kartagener Syndrome Genetics Klinefelter Syndrome Genetics Klippel-Tremauney Genetics Lack of Coordination (seen after evaluated by Genetics Neuro first) Large Head Genetics Laron Dwarfism (seen after evaluated by Genetics Endo first) Laxity of Ligament Genetics Limb Anomaly (Limb Problems/Pain) Genetics LCHAD Long-Chain 3 Hydroxyzcyl-Coenzyme A Metabolics Dehydrogense Lissencephaly (seen after evaluated by Neuro Genetics first) Lymphedema Genetics Lymphatic Malformation Genetics Genetics Macroglossia Genetics Information gathered from https://wiki.utah.edu/confluence/pages/viewpage.action?pageId=146113859. Reviewed, edited and approved by Melissa Smith, Metabolic Clinic Coordinator, University of Utah Pediatric Genetics. Updated 05/2016.

Madelung Deformity Genetics Malignant Hyperthermia Genetics Malposition of the Heart and Apex Genetics MSUD Maple Syrup Urine Disease Metabolics Marfan’s Syndrome Genetics MCAD Medium-Chain Acyl-Coenzyme A Metabolics Dehydrogense Mental Retardation Genetics Metabolic Ataxia Metabolics Methycrotonyl Glycinuria Metabolics 3-Methylglutaconic Aciduria Metabolics Methylmalonic Acidemia Metabolics MTHFR Methylenetetrahydrofolate Reductase Metabolics Microcephaly Genetics Microdeletion/Microduplication Genetics Mitochondrial Disorders Metabolics Mixed Gonadal Dysgenesis Genetics Mobius Syndrome Genetics Morquio Genetics MPS Muccopolysaccharide Storage Disease Genetics MADD Multiple Acyl CoA Dehydrogenase Deficiency Metabolics MHE Multiple Hereditary Exostoses Genetics MDS Myelodysplastic Syndrome Genetics Myopia Bilateral Genetics Neurodegenerative Disorder Genetics/Metabolics NF/NF1/NF2 (including Type 1 &2) Genetics Neurological Anomalies Genetics Nevus Genetics Niemann-Pick Type C Metabolics Genetics OAV Oculo-Auriculo-Vertebral Genetics Oculocutanesous Albinism Genetics Oculomotor Apraxia Genetics Information gathered from https://wiki.utah.edu/confluence/pages/viewpage.action?pageId=146113859. Reviewed, edited and approved by Melissa Smith, Metabolic Clinic Coordinator, University of Utah Pediatric Genetics. Updated 05/2016.

OS Medullo-Epithilioma Genetics OI Osteogenesis Imperfecta Genetics OTC Deficiency Metabolics Overgrowth Syndrome Genetics Pallister-Killian Syndrome Genetics Pan-Hypopituitary Genetics Paraganglioma Genetics Parkes-Weber Genetics Perinatal Condition Anomaly Genetics Periodic Fever Syndrome Genetics Postpartum Arterial Dissection Genetics PHACES Syndrome Genetics PKU Phenylketonuria Metabolics Genetics Poland’s Syndrome Genetics Polydactyly Genetics Pompe Disease Metabolics Porphyria Metabolics Port Wine Nevus Genetics PW Prader Willi Syndrome Genetics Propionic Acidemia Metabolics Psuedoxantoma Elasticum Genetics PTPS 6-Pyruvoyl-Tetrahydrobiopterin Synthase Metabolics Deficiency Ptosis of eyelid Genetics Refractory Epilepsy Genetics/Metabolics Retinoblastoma Genetics Genetics Rubenstein-Taybi Genetics Russell-Silver Syndrome Genetics Saethre-Chotzen Genetics Schizencephaly Genetics SchwanNoma Genetics Information gathered from https://wiki.utah.edu/confluence/pages/viewpage.action?pageId=146113859. Reviewed, edited and approved by Melissa Smith, Metabolic Clinic Coordinator, University of Utah Pediatric Genetics. Updated 05/2016.

Scoliosis Genetics SZS Seizures Genetics/Metabolics Septo Optic Dysplasia Genetics Genetics Shwachman-Diamond Syndrome Genetics Sickle Cell Metabolics Simpson Galabi Behmel Syndrome Genetics Sleep Apnea with Retrognathia Genetics Smith Lemli Syndrome Genetics Smith Magenis Syndrome Genetics Speech Delay Genetics Spinocerebellar Atrophy Genetics Static Encephalopathy Metabolics Sticklers Syndrome Genetics Stiffman Syndrome (Seen after evaluated by Neuro first) Sturge-Weber Genetics Subtle Syndrome Genetics Syndactyly of toes Genetics Tall Stature Genetics Tetraphocomelia Genetics Thode-Leonard Syndrome Genetics Thumb Contractures Genetics Toe Tag Genetics Torticollis Genetics Trichorhinophalangeal Syndrome Genetics Triple X Syndrome Genetics T21 Trisomy 21/Down Syndrome Genetics Tuberous Sclerosis Genetics Tyroinemia Metabolics VACTORL/VATER Genetics Vascular Birthmark Disorder Genetics Velo-Cardio Facial Syndrome/22Q Deletion Genetics Information gathered from https://wiki.utah.edu/confluence/pages/viewpage.action?pageId=146113859. Reviewed, edited and approved by Melissa Smith, Metabolic Clinic Coordinator, University of Utah Pediatric Genetics. Updated 05/2016.

Venous Malformation Genetics VLCAD Very Long Chain Acyl-CoA Dehydrogenase Metabolics Metabolics VHL Von Hippel-Lindau Syndrome Genetics Von Recklinhausen Disease/NF1 Genetics Von Willebrand’s Disease Genetics Werdnig-Hoffman (seen after evaluated by Genetics Neuro first) William’s Syndrome Genetics

Information gathered from https://wiki.utah.edu/confluence/pages/viewpage.action?pageId=146113859. Reviewed, edited and approved by Melissa Smith, Metabolic Clinic Coordinator, University of Utah Pediatric Genetics. Updated 05/2016.