List of congenital disorders

List of congenital disorders

Numerical

• 5p syndrome - see Cri du chat

A

• Albinism
• Amelia and hemimelia
• Amniotic Band syndrome
• Anencephaly
• Angelman syndrome
• Aposthia
• Arnold-Chiari malformation

B

• Bannayan-Zonana syndrome
• Bardet-Biedl syndrome
• Barth syndrome
• Basal Cell Nevus syndrome
• Beckwith-Wiedemann syndrome
• Benjamin syndrome
• Bladder exstrophy
• Bloom syndrome

C

• Cat Eye syndrome
• Caudal regression syndrome
• Sotos syndrome Cerebral Gigantism
• CHARGE syndrome
• Chromosome 16 Abnormalities
• Chromosome 18 Abnormalities
• Chromosome 20 Abnormalities
• Chromosome 22 Abnormalities
• Cleft lip/palate
• Cleidocranial dysostosis
• Club foot
• Congenital adrenal hyperplasia (CAH)
• Congenital central hypoventilation syndrome
• Congenital Diaphragmatic Hernia (CDH)
• Congenital Disorder of Glycosylation (CDG)
• Congenital hyperinsulinism
• Congenital insensitivity to pain with anhidrosis (CIPA)
• Congenital pulmonary airway malformation (CPAM)
• Conjoined twins
• Costello syndrome
• Craniopagus parasiticus
• Cri du chat syndrome
• Cyclopia
• Cystic fibrosis

D

• De Lange syndrome
• Diphallia
• Distal Trisomy 10q
• Down syndrome

E

• Ectodermal Dysplasia
• Ectopia cordis
• Ectrodactyly
• Encephalocele

F

• Fetal Alcohol Syndrome
• Fetofetal Transfusion
• First arch syndrome
• Freeman-Sheldon syndrome

G

• Gastroschisis
• Goldenhar syndrome

H

• Harlequin type ichthyosis
• Heart disorders (Congenital heart defects)
• Hemifacial Microsomia
• Holoprosencephaly
• Huntington's disease
• Hirschsprung's Disease, or congenital aganglionic megacolon
• Hypoglossia
• Hypomelanism or hypomelanosis (albinism)
• Hypospadias
• Haemophilia
• Heterochromia

·Hemochromatosis

I

• Imperforate anus
• Incontinentia pigmenti
• Intestinal neuronal dysplasia
• Ivemark syndrome

J

• Jacobsen syndrome

K

• Katz syndrome
• Klinefelter syndrome
• Kabuki syndrome

L

• Larsen syndrome
• Laurence-Moon syndrome
• Lissencephaly

M

• Marfan syndrome
• Microcephaly
• Microtia
• Monosomy 9p-
• Myasthenic Syndrome
• Myelokathexis

N

• Nager's Syndrome
• Nail-Patella syndrome
• Neonatal Jaundice
• Neurofibromatosis
• Neuronal Ceroid-Lipofuscinosis
• Noonan syndrome
• Nystagmus

O

• Ochoa syndrome
• Oculocerebrorenal syndrome

P

• Pallister-Killian syndrome
• Pectus Excavatum
• Pectus Carinatum
• Pierre Robin syndrome
• Poland Syndrome
• Polydactyly
• Prader-Willi syndrome
• Proteus syndrome
• Prune belly syndrome

R

• Radial aplasia
• Rett syndrome
• Robinow syndrome
• Rubinstein-Taybi syndrome

S

• Saethre-Chotzen syndrome
• Schizencephaly
• Sirenomelia
• Situs inversus
• Smith-Lemli-Opitz syndrome
• Smith-Magenis syndrome
• Spina bifida
• Strabismus
• Sturge-Weber syndrome
• Syphilis, Congenital

T

• Teratoma
• Treacher Collins syndrome
• Trichothiodystrophy
• Triple-X Females
• Trisomy 13
• Trisomy 9
• Turner syndrome

U

• Umbilical hernia
• Usher syndrome

W

• Waardenburg's syndrome
• Werner syndrome
• Wolf-Hirschhorn syndrome
• Wolff-Parkinson-White syndrome

See also

• ICD-10 Chapter Q: Congenital malformations, deformations and chromosomal abnormalities
• List of ICD-9 codes 740-759: Congenital anomalies
• Rare disease