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general/congenital-disorders

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List of congenital disorders

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none

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
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