Mowat-Wilson syndrome (MWS) is a rare genetic disorder that may be apparent at birth or later in childhood. It 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, eye (ophthalmologic) defects, 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 Hirsch sprung disease 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.
Signs & Symptoms
- Intellectual disability
- Abnormal facial appearance
- Delayed speech
- Seizures
- Intestinal disorders
- Congenital heart abnormalities
- Problem with development of kideney and certain areas of brain which connect 2 hemisphere ( corpus callosam)
- Short stature
- delayed developmental milestones
