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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Waardenburg syndrome type 2


Other Names for this Disease
  • WS 2
  • WS type 2
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Overview



What is Waardenburg syndrome type 2?

What are the signs and symptoms of Waardenburg syndrome type 2?


What is Waardenburg syndrome type 2?

Waardenburg syndrome type 2 is an inherited condition that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes.[1] About 50 percent of those with Waardenburg syndrome type 2 have a hearing impairment or are deaf.[2]  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.[1]
Last updated: 12/9/2011

What are the signs and symptoms of Waardenburg syndrome type 2?

In general, Waardenburg syndrome is characterized by varying degrees of hearing loss and changes in skin and hair color (pigmentation). Those with Waardenburg syndrome type 2, do not have a wide space between the inner corners of their eyes or other facial abnormalities. Most have a hearing impairment or are deaf and also have heterochromia of the iris (two different colored eyes).[2][3] Other features of Waardenburg syndrome, including white forelock, premature graying of the hair, and irregular depigmentation of the skin, are less common in this type.[3]
Last updated: 10/19/2011

References
  1. Waardenburg syndrome. Genetics Home Reference (GHR). April 2006; http://ghr.nlm.nih.gov/condition/waardenburg-syndrome. Accessed 10/19/2011.
  2. Waardenburg Syndrome. National Institute on Deafness and Communication Disorders (NIDCD). June 2010; http://www.nidcd.nih.gov/health/hearing/waard.asp. Accessed 10/19/2011.
  3. Faivre L & Vekemans M. Waardenburg syndrome type II. Orphanet. April 2005; http://www.orpha.net/data/patho/GB/uk-WS2(05).pdf. Accessed 10/19/2011.