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Mowat-Wilson syndrome
Other Names for this Disease
- Hirschsprung disease mental retardation syndrome
- Mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease
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Overview
Mowat-Wilson syndrome (MWS) is a rare genetic disorder mainly characterized by intellectual disability, distinctive facial features and seizures. Other findings vary and may include Hirschsprung disease; heart (cardiac) defects; kidney (renal) abnormalities; male genital abnormalities; and short stature. It is caused by mutations in the ZEB2 gene, which usually occur as new mutations in the affected individual. The treatment of MWS is typically directed toward the specific symptoms that are apparent in each individual.[1]
References
- Mowat-Wilson Syndrome. NORD. http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1148/viewAbstract. Accessed May 14, 2011.
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General Information
- Genetics Home Reference (GHR) contains information on Mowat-Wilson syndrome. Click on the link to go to GHR and review the information.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Mowat-Wilson syndrome. 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 Mowat-Wilson syndrome. Click on the link to go to OMIM and review these resources.