Mowat-Wilson Syndrome

Synonyms

• MWS
• Hirschsprung Disease-Mental Retardation Syndrome

Disorder Subdivisions

• None

General Discussion

Mowat-Wilson syndrome (MWS) is a rare genetic disorder that may be apparent at birth or in the first year of life. MWS is characterized by mental retardation, distinctive facial features and seizures. Other congenital anomalies occur in some individuals and can include a gastrointestinal disease known as Hirschsprung disease 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 is not present. Mowat-Wilson syndrome is caused by an abnormality in ZFHX1B gene that is usually the result of a new genetic change (mutation) in the affected person.

Resources

Congenital Heart Anomalies, Support, Education, & Resources
2112 North Wilkins Road
Swanton, OH 43558
Tel: (419)825-5575
Fax: (419)825-2880
Email: chaser@compuserve.com
Internet: http://www.csun.edu/~hcmth011/chaser/chaser-news.html

NIH/National Institute of Child Health & Human Development (Preg & Perinat)
Pregnancy and Perinatology Branch
6100 Executive Blvd Rm 4B03
Bethesda, MD 20892-7510
Tel: (301)496-5575
Email: BOCKR@mail.nih.gov
Internet: http://www.nichd.nih.gov

International Foundation for Functional Gastrointestinal Disorders
P.O. Box 170864
Milwaukee, WI 53217
USA
Tel: 4149641799
Fax: 4149647176
Tel: 8889642001
Email: iffgd@iffgd.org
Internet: http://www.iffgd.org

Association of Genetic Support of Australasia, Inc.
66 Albion Street
Surry Hills
New South Wales, Intl 2010
Australia
Tel: 61 2 0211 1462
Fax: 61 2 9211 8077
Email: info@agsa-geneticsupport.org.au
Internet: http://www.agsa-geneticsupport.org.au

Mowat Wilson Support Group
13 Barry Avenue
Ingol
Preston
Lancashire,
UK
Tel: 01772-760119
Email: support@mowatwilsonsyndrome.co.uk
Internet: www.mowatwilsonsyndrome.co.uk

MowatWilson.org
4009 Tyler William Lane
Las Vegas, NV 89130
Tel: (702)658-5391
Email: davec@mowatwilson.org
Internet: http://www.mowatwilson.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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 www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 2/17/2006
Copyright 2005, 2006 National Organization for Rare Disorders, Inc.