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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
epilepsy. Other features may include Hirschsprung disease; heart (cardiac) defects; kidney (renal) abnormalities; genital abnormalities; eye abnormalities; and short stature. It is caused by a mutation or deletion in the ZEB2 gene, which usually occurs for the first time (sporadically) in affected people. Treatment typically focuses on the specific symptoms in each person.Mowat-Wilson syndrome (MWS) is a rare genetic disorder that affects many systems of the body. The main features include moderate to severe intellectual disability, distinctive facial features, and
Last updated: 3/10/2014
- Mowat-Wilson Syndrome. NORD. 2006; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1148/viewAbstract. Accessed 5/14/2011.
- Livia Garavelli and Paola Cerruti Mainardi. Mowat-Wilson syndrome. Orphanet Journal of Rare Diseases. 2007; 2(42):http://www.ojrd.com/content/2/1/42. Accessed 3/10/2014.
- 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) is an 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.
- 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.