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Mowat-Wilson Syndrome

Abstract

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NORD is very grateful to Dr. David Mowat, Clinical Geneticist, Sydney Children's Hospital, Australia, for assistance in the preparation of this report.

Synonyms of Mowat-Wilson Syndrome

  • MWS

Disorder Subdivisions

  • No subdivisions found.

General Discussion

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.

Organizations related to Mowat-Wilson Syndrome

Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder (e.g., Hirschsprung disease, heart disease, etc.)

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

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