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Waardenburg syndrome type 2

Orpha number ORPHA895
Synonym(s) -
Prevalence Unknown
Inheritance
  • Autosomal dominant
Age of onset Neonatal/infancy
ICD-10
  • E70.3
OMIM
UMLS
  • C2700265
MeSH
  • C536463
MedDRA -
SNOMED CT -

Summary

Waardenburg syndromes are deafness syndromes associated with pigmentary disturbances. Their incidence is 1/270,000 births/year. They are distinguished by their autosomal dominant transmission and their irregular depigmentation. Waardenburg syndrome type II (type IIA when linked to locus 3p13; type IIB when not linked to this locus) is a group of heterogeneous entities distinguished from Waardenburg syndrome type I by the absence of dystopia canthorum. The presence of a family history of congenital deafness or pigmentation anomalies is of importance for the diagnosis. Hearing aids to counter deafness and management of the associated malformations are recommended. Skin and eyes photoprotection is highly recommended.

Expert reviewer(s)

  • Pr Laurence FAIVRE-OLIVIER
  • Pr Michel VEKEMANS
Last update: April 2005

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Detailed information
Review article
  • EN (2005,pdf)
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