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.
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.
Congenital Heart Anomalies, Support, Education, & Resources, Inc. (CHASER, Inc.)
2112 North Wilkins Road
Swanton, OH 43558
NIH/National Institute of Child Health & Human Development (Preg & Perinat)
Pregnancy and Perinatology Branch
6100 Executive Blvd Rm 4B03
Bethesda, MD 20892-7510
International Foundation for Functional Gastrointestinal Disorders
P.O. Box 170864
Milwaukee, WI 53217
Association of Genetic Support of Australasia, Inc.
66 Albion Street
New South Wales, Intl 2010
Tel: 61 2 0211 1462
Fax: 61 2 9211 8077
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Mowat Wilson Support Group
13 Barry Avenue
Tel: 01772 760119
4009 Tyler William Lane
Las Vegas, NV 89130
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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