# 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 (inborn circumcision)
* 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
* klippel-feil 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
* Pancreaticobiliary maljunction
* 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