Diseases & Conditions


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Mowat-Wilson Syndrome


Synonyms of Mowat-Wilson Syndrome
  • Hirschsprung Disease-Mental Retardation Syndrome
  • MWS

Disorder Subdivisions



    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.

    Organizations related to Mowat-Wilson Syndrome
    • Association of Genetic Support of Australasia, Inc.
      66 Albion Street
      New South Wales Intl 2010
      Phone #: 61 -2 0-211 1462
      800 #: --
      e-mail: info@agsa-geneticsupport.org.au
      Home page: http://www.agsa-geneticsupport.org.au
    • Congenital Heart Anomalies, Support, Education, & Resources
      2112 North Wilkins Road
      Swanton OH 43558
      Phone #: 419-825-5575
      800 #: --
      e-mail: chaser@compuserve.com
      Home page: http://www.csun.edu/~hcmth011/chaser/chaser-news.html
    • International Foundation for Functional Gastrointestinal Disorders
      P.O. Box 170864
      Milwaukee WI 53217
      Phone #: 414-964-1799
      800 #: 888-964-2001
      e-mail: iffgd@iffgd.org
      Home page: http://www.iffgd.org
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: mums@netnet.net
      Home page: http://www.netnet.net/mums/
    • Mowat Wilson Support Group
      13 Barry Avenue
      Lancashire None None
      Phone #: 017-72--760119
      800 #: N/A
      e-mail: support@mowatwilsonsyndrome.co.uk
      Home page: www.mowatwilsonsyndrome.co.uk
    • MowatWilson.org
      4009 Tyler William Lane
      Las Vegas NV 89130
      Phone #: 702-658-5391
      800 #: N/A
      e-mail: davec@mowatwilson.org
      Home page: http://www.mowatwilson.org
    • NIH/National Institute of Child Health & Human Development (Preg & Perinat)
      Pregnancy and Perinatology Branch
      Bethesda MD 20892-7510
      Phone #: 301-496-5575
      800 #: --
      e-mail: BOCKR@mail.nih.gov
      Home page: http://www.nichd.nih.gov



    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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