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Waardenburg syndrome type 3

Disease definition

Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.

ORPHA:896

  • Synonym(s):
    • Klein-Waardenburg syndrome
    • WS3
    • Waardenburg syndrome type III
    • Waardenburg syndrome with limb anomalies
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: E70.3
  • OMIM: 148820
  • UMLS: -
  • MeSH: -
  • GARD: 5523
  • MedDRA: -

Detailed information

Professionals

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