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Waardenburg syndrome type 3

Orpha number ORPHA896
Synonym(s) Klein-Waardenburg syndrome
WS3
Waardenburg syndrome with limb anomalies
Prevalence Unknown
Inheritance
  • Autosomal dominant
Age of onset Neonatal/infancy
ICD-10
  • E70.3
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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


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Detailed information

Review article
  • EN (2005,pdf)
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