Other Names for this Disease
- Mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease
- Hirschsprung disease mental retardation syndrome
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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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.
- 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.