Mowat-Wilson Syndrome

National Organization for Rare Disorders, Inc.

It is possible that the main title of the report Mowat-Wilson Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.


  • MWS

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.


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

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
TDD: (888)320-6942

Association of Genetic Support of Australasia, Inc.
66 Albion Street
Surry Hills
New South Wales, 2010
Tel: 61292111462
Fax: 61292118077

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
TDD: (888)205-3223

Mowat Wilson Support Group
13 Barry Avenue
United Kingdom
Tel: 01772760119
4009 Tyler William Lane
Las Vegas, NV 89130
Tel: (702)658-5391

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site or email

Last Updated:  8/7/2012
Copyright  2005, 2006, 2012 National Organization for Rare Disorders, Inc.