Mowat-Wilson Syndrome

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Mowat-Wilson Syndrome is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Mowat-Wilson syndrome (MWS) is a rare genetic disorder that may be apparent at birth or later in childhood. MWS is characterized by intellectual disability, distinctive facial features and seizures. Other congenital anomalies occur in some individuals and can include a gastrointestinal disease known as Hirschsprung disease (40-50% of individuals) in which a narrowing of a portion of the colon is present, heart (cardiac) defects, kidney (renal) abnormalities, male genital abnormalities and short stature. Some affected individuals may not be recognized until childhood or adulthood, especially when Hirschsprung disease (HSCR) is not present. MWS is caused by an abnormality in the ZEB2 gene that is usually the result of a new genetic change (mutation) in the affected person.

Supporting Organizations

Genetic Alliance Australia

C-/ The Garvan Institute of Medical Research
Level 6, 384 Victoria Street
Darlinghurst NSW, 2010
Tel: +61 2 9295 8365
Fax: +61 2 9295 8181

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311

International Foundation for Functional Gastrointestinal Disorders

700 W. Virginia St., 201
Milwaukee, WI 53217
Tel: (414)964-1799
Fax: (414)964-7176
Tel: (888)964-2001

Mowat Wilson Support Group

13 Barry Avenue
United Kingdom
Tel: 1772760119

Mowat-Wilson Syndrome Foundation

4009 Tyler William Ln
Las Vegas, NV 89130

4009 Tyler William Lane
Las Vegas, NV 89130
Tel: (702)658-5391

NIH/National Institute of Child Health and Human Development

31 Center Dr
Building 31, Room 2A32
Bethesda, MD 20892
Fax: (866)760-5947
Tel: (800)370-2943

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  8/7/2012
Copyright  2012 National Organization for Rare Disorders, Inc.