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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
- No subdivisions found.
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.)
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