Orphanet: Waardenburg syndrome type 3

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Waardenburg syndrome type 3

Disease definition

A very rare subtype of Waardenburg syndrome (WS) 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.


Classification level: Subtype of disorder
  • 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: C0079661  C0599973
  • MeSH: -
  • GARD: 5523
  • MedDRA: -

Detailed information


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