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Waardenburg syndrome type 4
Other Names for this Disease
- Hirschsprung disease with pigmentary anomaly
- Shah-Waardenburg syndrome
- Waardenburg-Hirschsprung disease
- Waardenburg-Shah syndrome
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Waardenburg syndrome type 4, also known as Waardenburg-Shah syndrome, is a genetic condition that can cause hearing loss; changes in coloring (pigmentation) of the hair, skin, and eyes; and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine. Waardenburg syndrome type 4 is further divided into types 4A, 4B, and 4C based on their genetic cause. Type 4A is caused by mutations in the EDNRB gene, mutations in EDN3 cause 4B, and mutations in SOX10 cause type 4C. This condition is usually inherited in an autosomal dominant fashion; however, some cases of type 4 appear to have an autosomal recessive pattern of inheritance.
Last updated: 4/18/2011
- Waardenburg syndrome. Genetics Home Reference (GHR). April 2006; http://ghr.nlm.nih.gov/condition/waardenburg-syndrome. Accessed 10/19/2011.
- Waardenburg syndrome, type 4A; WS4A. Online Mendelian Inheritance of Man. 2010; http://www.ncbi.nlm.nih.gov/omim/277580. Accessed 4/18/2011.
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In Depth Information
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