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Waardenburg syndrome type 1

Other Names for this Disease
  • Waardenburg's syndrome type 1
  • WS1
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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


  1. Waardenburg syndrome. Genetics Home Reference (GHR). April 2006; Accessed 10/20/2011.
  2. Milunsky JM. Waardenburg Syndrome Type I. GeneReviews. August 2009; Accessed 10/20/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Waardenburg syndrome type 1. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information.  Click on the link to view information on this topic.
  • The National Institute on Deafness and Other Communication Disorders (NIDCD) conducts and supports biomedical and behavioral research and research training in the normal and disordered processes of hearing, balance, smell, taste, voice, speech, and language. Click on the link to view information on this topic. 
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Waardenburg syndrome type 1. Click on the link to view a sample search on this topic.