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I'll also give you a list of other syndromes you can research for those same characteristics (I'm sure some of them have them): 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 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 Limb anomalies Lissencephaly 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 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 disorders 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 disorders
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