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Waardenburg syndrome type 2

Disease definition

Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS; see this term), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.

ORPHA:895

  • Synonym(s):
    • WS2
    • Waardenburg syndrome type II
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: E70.3
  • OMIM: 193510  600193  606662  608890  611584
  • UMLS: C2700265
  • MeSH: C536463
  • GARD: 5520
  • MedDRA: -

Detailed information

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.