Waardenburg syndrome type 1
Other Names for this Disease
- Waardenburg's syndrome type 1
 Mutations in the PAX3 gene cause the symptoms observed in this condition. Treatment is symptomatic and supportive. Waardenburg syndrome type 1 is inherited in an autosomal dominant manner.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.
Last updated: 10/20/2011
- Waardenburg syndrome. Genetics Home Reference (GHR). April 2006; http://ghr.nlm.nih.gov/condition/waardenburg-syndrome. Accessed 10/20/2011.
- Milunsky JM. Waardenburg Syndrome Type I. GeneReviews. August 2009; http://www.ncbi.nlm.nih.gov/books/NBK1531/. Accessed 10/20/2011.
- Genetics Home Reference (GHR) contains information on Waardenburg syndrome type 1. This website is maintained by the National Library of Medicine.
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