What is Mowat-Wilson syndrome?
Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, delayed development, intellectual disability, an intestinal disorder called Hirschsprung disease, and other birth defects.
Children with Mowat-Wilson syndrome have a square-shaped face with deep-set, widely spaced 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 Mowat-Wilson syndrome have a long face with heavy eyebrows and a pronounced chin and jaw. Individuals with Mowat-Wilson syndrome tend to have a smiling, open-mouthed expression, and drooling is a significant feature in some. People with Mowat-Wilson syndrome typically have friendly and happy personalities.
Mowat-Wilson syndrome 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 Mowat-Wilson syndrome also slower to develop motor skills like sitting, standing, and walking.
More than half of people with Mowat-Wilson syndrome are born with an intestinal disorder called Hirschsprung disease. Hirschsprung disease causes severe constipation, intestinal blockage, and enlargement of the colon. Chronic constipation is common in Mowat-Wilson syndrome, even in people who have not been diagnosed with Hirschsprung disease.
Other features of Mowat-Wilson syndrome include short stature, seizures, heart defects, and abnormalities of the urinary tract and genitalia. Less often, this condition may affect the eyes, teeth, hands, and skin coloring (pigmentation). Although many different medical issues have been associated with Mowat-Wilson syndrome, not every person with this condition has all of these features.