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Genetic and Rare Diseases Information Center (GARD)

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Waardenburg syndrome type 1


Other Names for this Disease

  • Waardenburg's syndrome type 1
  • WS1
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Overview

What is Waardenburg syndrome type 1?

What causes Waardenburg syndrome type 1?

What is Waardenburg syndrome type 1?

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.[1][2] Mutations in the PAX3 gene cause the symptoms observed in this condition.[1] Treatment is symptomatic and supportive.[2] Waardenburg syndrome type 1 is inherited in an autosomal dominant manner.[1][2]
Last updated: 10/20/2011

What causes Waardenburg syndrome type 1?

Waardenburg syndrome type 1 is caused by mutations in the PAX3 gene. Researchers believe that mutations in the PAX3 gene destroy the ability of the PAX3 protein to bind to DNA and regulate the activity of other genes. As a result, pigment cells (melanocytes) do not develop in certain areas of the skin, hair, eyes, and inner ear, which leads to the hearing loss and patchy loss of pigmentation that are characteristic features of Waardenburg syndrome. In addition, these mutations disrupt the development of certain craniofacial bones, causing the widely spaced eyes that are unique to Waardenburg syndrome type 1.[3]  
Last updated: 10/20/2011

References
  1. Waardenburg syndrome. Genetics Home Reference (GHR). April 2006; http://ghr.nlm.nih.gov/condition/waardenburg-syndrome. Accessed 10/20/2011.
  2. Milunsky JM. Waardenburg Syndrome Type I. GeneReviews. August 2009; http://www.ncbi.nlm.nih.gov/books/NBK1531/. Accessed 10/20/2011.
  3. PAX3. Genetics Home Reference (GHR). April 2006; http://ghr.nlm.nih.gov/gene/PAX3. Accessed 10/20/2011.


Other Names for this Disease
  • Waardenburg's syndrome type 1
  • WS1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.