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Waardenburg syndrome type 2
Other Names for this Disease
- WS 2
- WS type 2
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Waardenburg syndrome type 2 is an inherited condition that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. About 50 percent of those with Waardenburg syndrome type 2 have a hearing impairment or are deaf. Type 2 is one the most common forms of Waardenburg syndrome, along with type 1. Waardenburg syndrome type 2 may be caused by mutations in the MITF and SNAI2 genes. This condition is usually inherited in an autosomal dominant fashion, but can sometimes be inherited as an autosomal recessive trait.
- Waardenburg syndrome. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition/waardenburg-syndrome. Accessed October 19, 2011.
- Waardenburg Syndrome. National Institute on Deafness and Communication Disorders (NIDCD). http://www.nidcd.nih.gov/health/hearing/waard.asp. Accessed October 19, 2011.
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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.
- 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.
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- PubMed is a searchable database of medical literature and lists journal articles that discuss Waardenburg syndrome type 2. 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 2. Click on the link to go to OMIM and review these resources.