Waardenburg syndrome type 1

Print

Disease Overview

Waardenburg syndrome type 1 is a genetic condition characterized by eyes that appear widely spaced, congenital hearing loss, and patchy pigment disturbances of the iris, hair and skin.[4550][4551] Mutations in the PAX3 gene cause the symptoms observed in this condition.[4550] Treatment is symptomatic and supportive.[4551] Waardenburg syndrome type 1 is inherited in an autosomal dominant manner.[4550][4551]


Synonyms

  • WS1
  • Waardenburg's syndrome type 1

For more information, visit GARD.

National Organization for Rare Disorders