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Waardenburg syndrome type 1

Other Names for this Disease
  • Waardenburg's syndrome type 1
  • WS1
More Names
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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.[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]


References

  1. Waardenburg syndrome. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition/waardenburg-syndrome. Accessed October 20, 2011.
  2. Milunsky JM. Waardenburg Syndrome Type I. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1531/. Accessed October 20, 2011.
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General Information

  • Genetics Home Reference (GHR) contains information on Waardenburg syndrome type 1. Click on the link to go to GHR and review the information.
  • MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
  • 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.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • 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.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Waardenburg syndrome type 1. Click on the link to go to OMIM and review these resources.