Genetic and Rare Conditions Site



Medical Genetics, University of Kansas Medical Center

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• Aarskog syndrome
• Achondroplasia
• Achromatopsia
• Acoustic neuroma (and benign cranial nerve tumors)
• Adrenal hyperplasia
• Adrenoleukodystrophy
• Agenesis of corpus callosum
• Aicardi syndrome
• Alagille syndrome
• Albinism (& (hypopigmentation)
• Alopecia areata
• Alstrom syndrome
• Alpha-1-antitrypsin deficiency
• Ambiguous genitalia
• Androgen insensitivity syndrome(s)
• Anorchia
• Angelman syndrome
• Anopthalmia
• Apert syndrome
• Arthrogryposis (amyoplasia)
• Ataxia (Friedreich ataxia, spinocerebellar ataxias, ataxia telangiectasia, essential tremor, spastic paraplegia, other)
• Autism / Asperger syndrome
• Bardet-Biedl syndrome
• Basal cell carcinoma (Gorlin syndrome)
• Batten disease (neuronal ceroid lipofuscinosis)
• Beckwith-Wiedemann syndrome
• Blepharophimosis
• Blind (vision anomalies)
• Brain Conditions / Disorders
• Branchio-Oto-Renal (BOR) syndrome
• Canavan
• Cancer: (ataxia telangiectasia, basal cell nevus, brain /spine, breast, colon / bowel, leukemia / lymphoma, lung, melanoma / skin, multiple endocrine neoplasia, oral, ovarian, pancreas, prostate, retinoblastoma, testicular, von Hippel-Lindau, xeroderma pigmentosa)
• Cardiofaciocutaneous syndrome
• Celiac sprue (dermatitis herpiformis, gluten intolerance)
• Charcot-Marie-Tooth (peroneal muscular atrophy, hereditary motor sensory neuropathy)
• CHARGE association
• Chromosome anomalies - trisomy, deletions, inversions, duplications, translocations, 4p- (Wolf-Hirshhorn), 5 (cri-du-chat, 5p-), 7, 8, 9 (trisomy 9, 9p-), 11 (11q, 11;22), 13 (trisomy 13, Patau), 14, 15, 16, 17, 18 (18q-, 18p-, ring 18, trisomy 18, tetrasomy 18p, Edwards), 20, 21 (Down syndrome, trisomy 21), 22, X & Y [sex chromosome anomalies, Klinefelter (XXY, other), Turner (XO, other), fragile-X, other]
• Cleft lip and/or cleft palate
• Cockayne syndrome (xeroderma pigmentosum)
• Coffin-Lowry syndrome
• Coffin-Siris syndrome
• Congenital heart defects
• Connective tissue conditions (Marfan syndrome, pseudoxanthoma elasticum (PXE),cutis laxa, dwarfism, skeletal dysplasia, Ehlers Danlos syndrome, hyperextensible joints, Beals syndrome, congenital contractural arachnodactyly, other)
• Cooley anemia (thalassemia major, beta-thalassemia)
• Conjoined twins
• Cornelia de Lange syndrome
• Costello syndrome
• Craniofacial conditions (Apert, Crouzon, Treacher Collins, Goldenhar, hemifacial microsomia), Nager Miller, neurofibromatosis, ear anomalies, other)
• Cri-du-Chat (5p-)
• Cystic fibrosis
• Cystinosis
• Cystinuria
• Dandy-Walker syndrome
• Deaf / hard of hearing
• Dermatological (skin) conditions
• Developmental delay / mental retardation
• Diabetes
• DiGeorge syndrome
• Down syndrome (Trisomy 21, see chromosome syndromes)
• Dubowitz syndrome
• Dwarfism/ short stature (achondroplasia, Jeune, multiple exostoses, hormonal short stature, other forms)
• Dysautonomia
• Dystonia
• Ectodermal dysplasia
• Ehlers Danlos syndrome (& cutis laxa)
• Endocrine Conditions (adrenal, androgen, diabetes, thyroid, ovaries, other)
• Epidermolysis bullosa
• Facial anomalies, disfigurement (craniofacial, cleft)
• Factor V Leiden (thrombophilia)
• Fanconi anemia
• Fetal alcohol syndrome and effects
• FG syndrome
• Fragile-X syndrome (Martin-Bell)
• Friedreich ataxia
• Freeman Sheldon syndrome (craniocarpotarsal dystrophy)
• Galactosemia
• Gardner syndrome (intestinal polyposis)
• Gastroenterology conditions (stomach, small intestine, large intestine, colon)
• Gaucher disease
• Glycogen storage disease
• Goldenhar syndrome (hemifacial microsomia)
• Gorlin syndrome (basal cell carcinoma, nevi)
• Hallermann Streiff syndrome
• Hearing problems
• Heart conditions (congenital heart, adult cardiovascular)
• Hemochromatosis (iron overload)
• Hemophilia
• Hemoglobinopathies
• Hereditary hemorrhagic telangiectasia (HHT, Osler-Weber-Rendu syndrome)
• Hereditary spastic paraplegia (familial spastic paraparesis)
• Hermansky-Pudlak syndrome
• Hirschsprung anomaly
• Holoprosencephaly
• Huntington disease
• Hydrocephalus (neural tube defects, hydranencephaly)
• Ichthyosis (also, epidermolytic hyperkeratosis, multiple sulfatase deficiency, keratoderma, Refsum disease, other)
• Immune deficiencies
• Incontinentia pigmenti
• Infant death
• Infertility
• Intestinal problems (gastrointestinal, illium, colon, bowel)
• Joseph disease
• Joubert syndrome
• Kabuki syndrome
• Kidney conditions
• Klinefelter syndrome (see chromosome syndromes)
• Klippel-Feil syndrome
• Klippel-Trenaunay syndrome
• Langer-Giedion syndrome
• Laurence-Moon-Biedl syndrome (Laurence-Moon Bardet-Biedl syndrome)
• Leber Optic Atrophy
• Leigh disease
• Lesch-Nyhan syndrome
• Leukodystrophy [Adrenoleukodystrophy (ALD), Alexanders Disease, CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts & Leukoencephalopathy), Canavan Disease (Spongy Degeneration), Cerebrotendinous Xanthomatosis (CTX), Globoid Cell (Krabbes) Leukodystrophy, Metachromatic Leukodystrophy (MLD), Ovarioleukodystrophy , Pelizaeus-Merzbacher Disease, Refsum Disease, van der Knaap syndrome, Zellweger syndrome]
• Limb anomalies [missing arm(s) or leg(s), Poland anomaly, other]
• Lissencephaly [Isolated Sequence (ILS), X-Linked (XLIS), Subcortical Band Heterotopia (SBH), Miller-Dieker syndrome (MDS), Microcephaly, Microlissencephaly  (MLIS), Norman-Roberts syndrome (NRS), With Cerebellar Hypoplasia (LCH), Polymicrogyria (PMG), Schizencephaly (SCH), Muscle-Eye-Brain (MEB) Disease, and Walker-Warburg syndrome (WWS), 17p13.3 deletion]
• Liver conditions (biliary atresia, Alagille syndrome, alpha-1 antitrypsin, tyrosinemia, neonatal hepatitis, Wilson disease)
• Lowe syndrome
• Lung / pulmonary conditions
• Lymphedema
• Maffucci syndrome(Ollier, multiple cartilaginous enchondromatosis)
• Malignant hyperthermia
• Maple syrup urine disease
• Marinesco-Sjogren Syndrome
• Marfan syndrome
• Menkes syndrome
• Mental retardation / developmental delay
• Metabolic conditions (biotinidase deficiency, carbohydrate deficient glycoprotein syndrome (CDGS), Crigler-Najjar syndrome, diabetes insipidus, Fabry, galactosemia, glucose-6-phosphate dehydrogenase (G6PD), fatty acid oxidation disorders, glutaric aciduria, hypophosphatemia, Krabbe, lactic acidosis, lysosomal storage diseases, mannosidosis, maple syrup urine, mitochondrial, neuro-metabolic, organic acidemias, PKU, purine, pyruvate dehydrogenase deficiency, urea cycle conditions, vitamin D deficient rickets)
• Miscarriage, stillbirth, infant death
• Mitochondrial conditions (Alpers, Barth, beta-oxidation defects, carnitine deficiency, CPEO, Kearns-Sayre, lactic acidosis, Leber optic neuropathy, Leigh, LCAD, Luft, MCAD, MAD, glutaric aciduria, MERRF, MNGIE, NARP, Pearson, PHD, SCAD, NADH-CoQ reductase, succinate dehydrogenase, Complex III, Complex IV, COX, Complex V, other)
• Moebius syndrome
• Mucolipidosis, type IV (ML4)
• Mucopolysaccharidosis (Hunter syndrome, Hurler syndrome, Maroteaux-Lamy syndrome, Sanfilippo syndrome, Scheie syndrome, Morquio syndrome, other)
• Multiple hereditary exostoses
• Muscular dystrophy / atrophy (neuromuscular conditions including: Duchenne, facioscapulohumeral, Charcot Marie Tooth, spinal muscular atrophy, other)
• Myotonic dystrophy
• Nager & Miller syndromes
• Nail Patella syndrome
• Narcolepsy
• Neurologic conditions (neuro-metabolic, neurogenetics, neuromuscular, CADASIL, Huntington disease, other)
• Neurofibromatosis (von Recklinghausen)
• Neuromuscular conditions
• Niemann-Pick disease
• Noonan syndrome
• Opitz syndromes [Opitz-Frias, Opitz FG (Opitz-Kaveggia), Opitz-C (Trigonocephaly)]
• Organic acidemias
• Osler-Weber-Rendu syndrome
• Osteogenesis imperfecta
• Oxalosis & hyperoxaluria
• Pallister-Hall syndrome
• Pallister-Killian syndrome (tetrasomy 12p, Teschler-Nicola syndrome)
• Periodic paralysis
• Phenylketonuria (PKU)
• Polycystic kidney disease
• Popliteal pterygium syndrome
• Porphyria
• Prader-Willi syndrome
• Progeria (Werner, Hutchinson-Gilford, Cockayne, Rothmond-Thomson syndromes)
• Proteus syndrome
• Prune belly syndrome
• Pseudoxanthoma elasticum (PXE)
• Psychiatric conditions
• Refsum disease
• Retinal degeneration
• Retinitis pigmentosa (retinal degenerative diseases, Usher syndrome)
• Retinoblastoma
• Rett syndrome
• Robinow syndrome
• Rubinstein-Taybi syndrome
• Russell-Silver syndrome
• Schizencephaly
• Sex chromosome anomalies (47,XXY, 47,XXX, 45,X and variants, 47,XYY)
• Shwachman syndrome
• Sickle cell anemia
• Skeletal dysplasia
• Skin / dermatological conditions
• Smith-Lemli-Opitz syndrome (RHS syndrome)
• Smith-Magenis syndrome (17p-)
• Sotos syndrome
• Spina bifida (myelomeningocele, neural tube defects)
• Spinal muscular atrophy (Werdnig-Hoffman, Kugelberg-Welander)
• Stickler / Marshall syndrome
• Stillbirth
• Sturge-Weber
• Tay-Sachs disease / other (dysautonomia, dystonia, Gaucher, Niemann Pick, Canavan, Bloom)
• Thalassemia (Cooley anemia)
• Thrombocytopenia absent radius syndrome
• Tourette syndrome
• Treacher Collins syndrome (craniofacial)
• Trisomy (21, 18, 13, 9, other, see chromosome syndromes)
• Tuberous sclerosis
• Turner syndrome
• Twins / triplets / multiple births
• Unknown & undiagnosed conditions
• Urea cycle conditions
• Urologic / kidney conditions
• Usher syndrome
• VATER association
• Velo-cardio-facial syndrome (Shprintzen, DiGeorge, 22q deletion)
• Visual impairment / blind
• Von Hippel-Lindau syndrome
• Waardenburg syndrome
• Weaver syndrome
• Werner syndrome
• Williams syndrome
• Wilson disease (hepatolenticular degeneration)
• Xeroderma pigmentosum
• Zellweger syndrome

• Unknown conditions

   

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Genetics Education Center
University of Kansas Medical Center © 1995-2012
Debra Collins, M.S. CGC, Genetic Counselor, dcollins@kumc.edu

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