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Waardenburg syndrome type 1

Disease definition

A subtype of Waardenburg syndrome (WS) characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.


Classification level: Subtype of disorder
  • Synonym(s):
    • WS1
    • Waardenburg syndrome type I
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: E70.3
  • OMIM: 193500
  • UMLS: C1847800
  • MeSH: -
  • GARD: 5519
  • MedDRA: -

Detailed information


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