List of congenital disorders
Numerical 47,XXY - see Klinefelter syndrome 5p syndrome - see Cri du chat syndrome
A Acrania Achondroplasia Acrocephalosyndactyly Apert syndrome Crouzon syndrome Pfeiffer syndrome Acrorenal mandibular syndrome Agenesis of the corpus callosum Albinism Amelia and hemimelia Amniotic band syndrome Anencephaly Angelman syndrome Aposthia (inborn circumcision) Arrhinia 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 Cebocephaly 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 hydrocephalus Congenital hyperinsulinism Congenital insensitivity to pain with anhidrosis (CIPA) Congenital pulmonary airway malformation (CPAM) Conjoined twins Costello syndrome Craniopagus parasiticus Craniosynostosis Cri du chat syndrome Cyclopia Cystic fibrosis
D De Lange syndrome DiGeorge syndrome Diphallia Diprosopus Distal trisomy 10q Down syndrome Dwarfism
E Ectodermal dysplasia Ectopia cordis Ectrodactyly Edwards syndrome Encephalocele Epidermolysis bullosa Ethmocephaly Exencephaly
F Fetal alcohol syndrome Fetal hydantoin 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 Hypertelorism Hypotelorism
I Imperforate anus Imperforate hymen Incontinentia pigmenti Iniencephaly Intestinal neuronal dysplasia Ivemark syndrome
J Jacobsen syndrome
K Kallmann syndrome Katz syndrome Klinefelter syndrome Klippel-Feil syndrome Kabuki syndrome Kyphosis
L Larsen syndrome Laurence–Moon syndrome Lissencephaly Lordosis
M Macrocephaly Marfan syndrome Megalencephaly Microcephaly Micromelia Microtia Moebius syndrome 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 Osteogenesis imperfecta Otocephaly
P Pallister–Killian syndrome Pancreaticobiliary maljunction Patau syndrome Pectus excavatum Pectus carinatum Phocomelia Pierre Robin syndrome Poland syndrome Polydactyly Polymelia Polysyndactyly Prader–Willi syndrome Primordial dwarfism Proteus syndrome Prune belly syndrome
R Radial aplasia Rett syndrome Robinow syndrome Rubinstein–Taybi syndrome
S Saethre–Chotzen syndrome Schizencephaly Scoliosis Seckel syndrome 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 Thanatophoric dysplasia Thoracoschisis Treacher Collins syndrome Trichothiodystrophy Triple-X syndrome Trisomy 9 Turner syndrome
U Umbilical hernia Usher syndrome
W Waardenburg syndrome Warkany syndrome Werner syndrome Williams syndrome Wolf–Hirschhorn syndrome Wolff–Parkinson–White syndrome West syndrome
X XYY syndrome
See also Birth defect List of genetic disorders List of ICD-9 codes 740–759: congenital anomalies List of syndromes Rare disease