Mowat-Wilson Syndrome

National Organization for Rare Disorders, Inc.

Important
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.

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, Inc. (CHASER, Inc.)
2112 North Wilkins Road
Swanton, OH 43558
USA
Tel: (419)825-5575
Fax: (419)825-2880
Email: myer106w@wonder.em.cdc.gov
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: (414)964-1799
Fax: (414)964-7176
Tel: (888)964-2001
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

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

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

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

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