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Waardenburg syndrome

Disease definition

Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.

ORPHA:3440

  • Synonym(s): -
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E70.3
  • OMIM: 148820  193500  193510  600193  606662  608890  611584
  • UMLS: C0043008  C3266898
  • MeSH: D014849
  • GARD: 5525
  • MedDRA: 10069203

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