Orphanet: Waardenburg Shah syndrome

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Waardenburg-Shah syndrome

Disease definition

Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).


Classification level: Disorder
  • Synonym(s):
    • Shah-Waardenburg syndrome
    • WS4
    • Waardenburg syndrome type 4
    • Waardenburg-Hirschsprung syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 277580  613265  613266
  • UMLS: C1848519  C3266898
  • MeSH: -
  • GARD: 5524
  • MedDRA: -

Detailed information


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