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Genetic and Rare Diseases Information Center (GARD)

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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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 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.[1][2]
Last updated: 3/10/2014

References

  1. Mowat-Wilson Syndrome. NORD. 2006; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1148/viewAbstract. Accessed 5/14/2011.
  2. 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.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

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Basic Information

  • 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.
Other Names for this Disease
  • Hirschsprung disease mental retardation syndrome
  • Mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.