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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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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.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
Last updated: 6/1/2011
- Mowat-Wilson Syndrome. NORD. 2006; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1148/viewAbstract. Accessed 5/14/2011.
- Genetics Home Reference (GHR) contains information on Mowat-Wilson syndrome. This website is maintained by the National Library of Medicine.
- 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.
In Depth Information
- 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.
- 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 Mowat-Wilson syndrome. Click on the link to view a sample search on this topic.