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 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.
Genetic Alliance Australia
- C-/ The Garvan Institute of Medical Research
- Level 6, 384 Victoria Street
- Darlinghurst NSW, 2010
- Tel: +61 2 9295 8365
- Fax: +61 2 9295 8181
- Email: firstname.lastname@example.org
- Website: http://www.geneticalliance.org.au/
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
- Website: http://rarediseases.info.nih.gov/GARD/
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
- Email: email@example.com
- Website: http://www.iffgd.org
Mowat Wilson Support Group
- 13 Barry Avenue
- United Kingdom
- Tel: 1772760119
- Email: firstname.lastname@example.org
- Website: http://www.mowatwilsonsyndrome.org.uk/
- 4009 Tyler William Lane
- Las Vegas, NV 89130
- Tel: (702)658-5391
- Email: email@example.com
- Website: http://www.mowatwilson.org
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
- Email: NICHDInformationResourceCenter@mail.nih.gov
- Website: http://www.nichd.nih.gov/
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 www.rarediseases.org 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 www.rarediseases.org or email firstname.lastname@example.org
Last Updated: 1/19/1970
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