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Waardenburg-Shah syndrome

Disease definition

Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities; see this term) and Hirschsprung disease (see this term).

ORPHA:897

  • 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

Professionals

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