Congenital and Genetic Diseases
Congenital disorder, also known as congenital disease, birth defect or anomaly, is a condition existing at or before birth regardless of cause. Congenital disorders can be inherited or occur as a result of environmental factors. Birth defects are present in about 3% of newborns in USA. Although congenital anomalies may be genetic, infectious, nutritional or environmental in origin, most often it is difficult to identify the exact causes. The most common severe congenital disorders/anomalies are heart defects, neural tube defects and Down syndrome.
- 1p36 deletion syndrome - See Chromosome 1p36 deletion syndrome
- 22q11.2 deletion syndrome
- 22q11.2 duplication syndrome
- 3-hydroxy-3-methylglutaric aciduria - See 3-hydroxy-3-methylglutaric aciduria (HMG)
- 3-hydroxy-3-methylglutaric aciduria (HMG)
- Aarskog disease - See Aarskog syndrome
- Aarskog syndrome
- Aarskog-Scott syndrome - See Aarskog syndrome
- AAS - See Aarskog syndrome
- AATD - See Alpha-1-antitrypsin deficiency
- ACH - See Achondroplasia
- Achondroplasia
- Achondroplastic dwarfism - See Achondroplasia
- acid maltase deficiency - See Pompe disease
- Acid spingomyelinase deficiency - See Niemann-pick types a/b
- Acute intermittent porphyria
- Acyl-coa dehydrogenase, medium-chain, deficiency of
- Acyl-coa dehydrogenase, short-chain, deficiency of
- Adrenoleukodystrophy
- aganglionic megacolon - See Hirschsprung disease
- AGL deficiency - See Glycogen storage disease type III
- AIC - See Aicardi syndrome
- Aicardi syndrome
- Aicardi's syndrome - See Aicardi syndrome
- Alagille syndrome
- Alagille's syndrome - See Alagille syndrome
- Alagille-Watson syndrome - See Alagille syndrome
- Alkaptonuria
- Alpha-1-antitrypsin deficiency
- Alpha-Galactosidase A deficiency - See Fabry disease
- Alpha-thalassemia
- Alpha-thalassemia/mental retardation syndrome, x-linked
- Alstrom syndrome
- Amylo-1,6-glucosidase deficiency - See Glycogen storage disease type III
- Andermann syndrome
- Andersen-tawil syndrome
- Anderson-Fabry disease - See Fabry disease
- Angelman syndrome
- Angiokeratoma corporis diffusum - See Fabry disease
- Antley-Bixler syndrome
- ARG1 deficiency - See Argininemia
- Argininemia
- Arteriohepatic dysplasia - See Alagille syndrome
- Arts syndrome
- Bannayan-Riley-Ruvalcaba syndrome
- Bardet-Biedl Syndrome
- Bartholin-Patau syndrome - See Trisomy 13
- Beckwith-wiedemann syndrome
- beta-glucuronidase Deficiency - See Mucopolysaccharidosis Type VII
- Bifid nose
- Biotinidase deficiency
- Bloom syndrome
- BOR syndrome - See Branchiootorenal syndrome
- Bourneville disease - See Tuberous sclerosis
- Branchiootorenal syndrome
- BRCA1, familial breast-ovarian cancer susceptibility 1
- Bronze Schilder Disease - See Adrenoleukodystrophy
- CADASIL
- Canavan disease
- CARASIL
- Cardiovertebral syndrome - See Alagille syndrome
- Cartilage-hair hypoplasia
- Cerebral sclerosis - See Adrenoleukodystrophy
- Cerebrotendinous xanthomatosis
- CHARGE syndrome
- Chromosome 17p13.3 deletion syndrome - See Miller-Dieker lissencephaly syndrome
- Chromosome 1p36 deletion syndrome
- Cleft nose - See Bifid nose
- colonic aganglionosis - See Hirschsprung disease
- Congenital disorder of glycosylation, type ia
- Congenital insensitivity to pain
- congenital megacolon - See Hirschsprung disease
- Cori disease - See Glycogen storage disease type III
- Cornelia de Lange syndrome
- Cowden syndrome
- Cri-du-chat syndrome
- Crouzon syndrome
- CTX - See Cerebrotendinous xanthomatosis
- Cystic fibrosis
- Cystinosis
- Dihydrolipoamide dehydrogenase deficiency
- dilantin embryopathy - See Fetal hydantoin syndrome
- Dravet syndrome
- Ehlers-Danlos syndrome, Kyphoscoliotic type (type VI)
- Ehlers-Danlos syndrome, Vascular type (type IV)
- Epidermolysis bullosa
- Fabry - See Fabry disease
- Fabry disease
- Familial adenomatous polyposis
- Familial hypospadias
- fetal dilantin syndrome - See Fetal hydantoin syndrome
- Fetal hydantoin syndrome
- Forbes disease - See Glycogen storage disease type III
- Fragile X syndrome
- Friedreich ataxia
- Gaucher disease
- GLA deficiency - See Fabry disease
- Glutaric acidemia type 1
- Glutaric acidemia type 2
- Glycogen storage disease 1a
- glycogen storage disease II - See Pompe disease
- Glycogen storage disease IIIa - See Glycogen storage disease type III
- Glycogen storage disease IIIb - See Glycogen storage disease type III
- Glycogen Storage Disease IV
- Glycogen storage disease type III
- GSD 3 - See Glycogen storage disease type III
- GSD III - See Glycogen storage disease type III
- Hepatic ductular hypoplasia - See Alagille syndrome
- Hepatofacioneurocardiovertebral syndrome - See Alagille syndrome
- Hereditary Diffuse Gastric Cancer
- Hirschsprung disease
- HMG - See 3-hydroxy-3-methylglutaric aciduria (HMG)
- Homocystinuria
- Huntington's disease
- Hutchinson-gilford progeria syndrome
- Hutchinson-Gilford syndrome - See Hutchinson-gilford progeria syndrome
- hydantoin embryopathy - See Fetal hydantoin syndrome
- Incontinentia pigmenti
- intestinal aganglionosis - See Hirschsprung disease
- Isovaleric acidemia
- Klinefelter syndrome
- LGMD - See Limb-girdle muscular dystrophy
- Li-fraumeni syndrome
- Limb-girdle muscular dystrophy
- LIS1-associated lissencephaly - See Miller-Dieker lissencephaly syndrome
- Lowe oculocerebrorenal syndrome
- Lysosomal acid lipase deficiency
- Male Turner syndrome - See Noonan syndrome
- Marfan syndrome
- MCAD deficiency - See Acyl-coa dehydrogenase, medium-chain, deficiency of
- MDLS - See Miller-Dieker lissencephaly syndrome
- MDS - See Miller-Dieker lissencephaly syndrome
- Melanodermic leukodystrophy - See Adrenoleukodystrophy
- Miller-Dieker lissencephaly syndrome
- Mosaic trisomy 14
- Mosaic trisomy 8
- Mosaic trisomy 9
- Mowat-Wilson syndrome
- MPS III - See Mucopolysaccharidosis Type III
- MPS VII - See Mucopolysaccharidosis Type VII
- Mucopolysaccharidosis Type III
- Mucopolysaccharidosis Type VII
- Muir-Torre syndrome
- multiple hamartoma syndrome - See Cowden syndrome
- Myotonic Dystrophy
- NCBRS - See Nicolaides-baraitser syndrome
- Nemaline Myopathy
- Neurofibromatosis, type II
- Nicolaides-baraitser syndrome
- Niemann-pick type c
- Niemann-pick types a/b
- Nijmegen breakage syndrome (NBS)
- Noonan syndrome
- Norrie disease
- Oculopharyngeal muscular dystrophy
- OI - See Osteogenesis imperfecta
- Ornithine transcarbamylase (OTC) deficiency
- Osteogenesis imperfecta
- Patau syndrome - See Trisomy 13
- Pendred syndrome
- Pfeiffer syndrome
- phenytoin embryopathy - See Fetal hydantoin syndrome
- Pitt-hopkins syndrome
- Polycystic kidney disease, autosomal recessive
- Pompe disease
- progeria - See Hutchinson-gilford progeria syndrome
- Propionic acidemia
- Rett syndrome
- Robinow syndrome
- Saethre-Chotzen syndrome
- Sanfilippo syndrome - See Mucopolysaccharidosis Type III
- SCADD - See Acyl-coa dehydrogenase, short-chain, deficiency of
- Schilder disease - See Adrenoleukodystrophy
- Schilder-Addison Complex - See Adrenoleukodystrophy
- Scott Aarskog syndrome - See Aarskog syndrome
- Sickle-cell anemia
- Siemerling-Creutzfeldt Diease - See Adrenoleukodystrophy
- Sly syndrome - See Mucopolysaccharidosis Type VII
- SMA - See Spinal muscular atrophy, type I
- SMA1 - See Spinal muscular atrophy, type I
- Smith-Lemli-Opitz syndrome
- Smith-magenis syndrome
- Sotos syndrome
- Sphingomyelinase deficiency - See Niemann-pick types a/b
- Spinal muscular atrophy, type I
- Syndromic biliary hypoplasia - See Alagille syndrome
- Thanatophoric dysplasia
- Trisomy 13
- Trisomy 18
- Trisomy 4p
- TT1 - See Tyrosinemia Type I
- Tuberous sclerosis
- Turner-like syndrome - See Noonan syndrome
- Tyrosinemia Type I
- Tyrosinemia Type II
- Ullrich congenital muscular dystrophy
- Ullrich-Noonan syndrome - See Noonan syndrome
- Usher syndrome
- Vitiligo-associated multiple autoimmune disease susceptibility 1
- Von hippel-lindau syndrome
- Watson-Miller syndrome - See Alagille syndrome
- Williams Syndrome
- Wilms Tumor
- Wilson disease
- X-linked adrenoleukodystrophy - See Adrenoleukodystrophy
- X-linked juvenile retinoschisis 1
