List of congenital disorders
List of congenital disorders
Numerical
- 5p syndrome - see Cri du chat syndrome
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
- 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
F
- Fetal alcohol syndrome
- Fetofetal transfusion
- First arch syndrome
- Freeman–Sheldon 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
- Incontinentia pigmenti
- Intestinal neuronal dysplasia
- Ivemark syndrome
M
- Macrocephaly
- Marfan syndrome
- Microcephaly
- Micromelia
- Microtia
- Monosomy 9p
- Myasthenic syndrome
- Myelokathexis
N
O
- Ochoa syndrome
- Oculocerebrorenal syndrome
- Oligodactyly
P
S
T
- Teratoma
- Treacher Collins syndrome
- Trichothiodystrophy
- Triple-X syndrome
- Trisomy 13
- Trisomy 9
- Turner syndrome
W
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See also
- ICD-10 Chapter Q: Congenital malformations, deformations and chromosomal abnormalities
- List of ICD-9 codes 740–759: congenital anomalies
- Rare disease
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