Waardenburg syndrome type 4
Other Names for this Disease
- Hirschsprung disease with pigmentary anomaly
- Shah-Waardenburg syndrome
- Waardenburg-Hirschsprung disease
- Waardenburg-Hirschsprung syndrome
- Waardenburg-Shah syndrome
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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- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Waardenburg syndrome type 4A
Waardenburg syndrome type 4B
Waardenburg syndrome type 4C
- 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 4. Click on the link to view a sample search on this topic.