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Waardenburg syndrome type 1
Other Names for this Disease
- Waardenburg's syndrome type 1
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 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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- 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.
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In Depth Information
- 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.
- 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.