List of congenital disorders

List of congenital disorders

Numerical

 * 5p syndrome - see Cri du chat syndrome

A

 * Acrorenal mandibular syndrome
 * 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
 * Brachydactyly

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
 * Genu recurvatum
 * Goldenhar syndrome

H

 * Harlequin-type ichthyosis
 * Heart disorders (Congenital heart defects)
 * Hemifacial microsomia
 * Holoprosencephaly
 * Huntington's disease
 * Hirschsprung's disease, or congenital aganglionic megacolon
 * Hypertrichosis
 * Hypoglossia
 * Hypomelanism or hypomelanosis (albinism)
 * Hypospadias
 * Haemophilia
 * Heterochromia
 * Hemochromatosis

I

 * Imperforate anus
 * Imperforate hymen
 * Incontinentia pigmenti
 * Intestinal neuronal dysplasia
 * Ivemark syndrome

J

 * Jacobsen syndrome

K

 * Katz syndrome
 * Klinefelter syndrome
 * Kabuki syndrome
 * Kyphosis

L

 * Larsen syndrome
 * Laurence–Moon syndrome
 * Lissencephaly
 * Lordosis

M

 * Macrocephaly
 * Marfan syndrome
 * Microcephaly
 * Micromelia
 * 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
 * Oligodactyly

P

 * Pallister–Killian syndrome
 * Pectus excavatum
 * Pectus carinatum
 * Phocomelia
 * Pierre Robin syndrome
 * Poland syndrome
 * Polydactyly
 * Polymelia
 * Polysyndactyly
 * Prader–Willi syndrome
 * Proteus syndrome
 * Prune belly syndrome

R

 * Radial aplasia
 * Rett syndrome
 * Robinow syndrome
 * Rubinstein–Taybi syndrome

S

 * Saethre–Chotzen syndrome
 * Schizencephaly
 * Scoliosis
 * Sickle cell disease
 * Sirenomelia
 * Situs inversus
 * Smith–Lemli–Opitz syndrome
 * Smith–Magenis syndrome
 * Spina bifida
 * Stickler Syndrome
 * Strabismus
 * Sturge–Weber syndrome
 * Symbrachydactyly
 * Syndactyly
 * Syphilis, congenital

T

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

U

 * Umbilical hernia
 * Usher syndrome

W

 * Waardenburg syndrome
 * Werner syndrome
 * Wolf–Hirschhorn syndrome
 * Wolff–Parkinson–White syndrome