Mowat-Wilson Syndrome (MWS) is a rare genetic disorder that may be apparent at birth or later in childhood. It is caused by an abnormality in the ZEB2 gene that is usually the result of a new genetic change (mutation) in the affected person. MWS almost always occurs as a new mutation. This means that in nearly all cases, the gene mutation has occurred at the time of formation of the egg or sperm for that child only, and no other member of the family will be affected. It is usually not inherited from, or “carried” by, a healthy parent. In a very small number of families, more than one child has been affected with MWS.
One rare finding is lack of a spleen, an organ that helps to fight certain types of infections. All individuals with MWS should be checked at the time of diagnosis to see if they have a spleen. This can be done through an ultrasound of the abdomen. Blood testing can sometimes also suggest that the spleen is absent.
MWS affects both males and females, and is estimated to occur in 1 in 50,000-100,000 births. MWS has been described in many different countries and ethnic groups worldwide.
MWS is characterized by distinctive facial features, intellectual disability, and seizures. Other congenital anomalies do 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 defects, eye defects, kidney abnormalities, male genital abnormalities, short stature, and absence of the area of the brain which connects the two cerebral hemispheres (agenesis of the corpus callosum).
Children with MWS have a square-shaped face with widely spaced and deep-set eyes. They also have a broad nasal bridge with a rounded nasal tip; a prominent and pointed chin; large, flaring eyebrows; and uplifted earlobes with a dimple in the middle. These facial features become more distinctive with age. Adults with MWS have an elongated face with heavy eyebrows and a pronounced chin and jaw. Affected people tend to have a smiling, open-mouthed expression, and they typically have friendly and happy personalities.
Less commonly, this condition also affects the eyes, teeth, hands, and skin coloring (pigmentation). Although many different medical issues have been associated with MWS, not every individual has all of the features.
MWS is often associated with an unusually small head (microcephaly), structural brain abnormalities, and intellectual disability ranging from moderate to severe. Speech is absent or severely impaired, and affected people may learn to speak only a few words. Many people with this condition can understand others’ speech, however, and some use sign language to communicate. If speech develops, it is delayed until mid-childhood or later. Children with MWS also have delayed development of motor skills such as sitting, standing, and walking.
There is no cure for this syndrome. Treatment is supportive and symptomatic. All children with Mowat–Wilson syndrome required early intervention with speech therapy, occupational therapy and physical therapy
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