List of congenital disorders

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

X

• XYY syndrome

See also

• Birth defect
• List of genetic disorders
• List of syndromes
• Rare disease