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.
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Are there other names for Mowat-Wilson syndrome?
Mowat-Wilson syndrome has also been called:
- Hirschsprung disease-mental retardation syndrome
- Hirschsprung Disease-Intellectual Disability Syndrome
- Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features
- Microcephaly, mental retardation, and distinct facial features, with or without Hirschsprung disease
What is the usual abbreviation for Mowat-Wilson syndrome?
Mowat-Wilson syndrome is often abbreviated as MWS.
Who is Mowat-Wilson syndrome named after?
Mowat-Wilson syndrome was named after two Australian doctors who first recognized the common findings in this condition. In 1998 Dr. David Mowat and Dr. Merideth Wilson reported six patients with the same medical problems and a similar look.
- Mowat DR, Wilson MJ, Goosens M. 2003. Mowat-Wilson syndrome. J Med Genet;40:305-310
How often does Mowat-Wilson syndrome happen?
Mowat-Wilson syndrome is rare. It has been estimated to happen about 1 in 50,000 live births or 1 in 70,000 live births, but some have suggested it may be more common.
How many people in the US have Mowat-Wilson syndrome?
The exact number of people in the US with Mowat-Wilson syndrome is unknown. There have been more than 250 people with Mowat-Wilson syndrome reported in the medical literature.
- Kilac E, Cetinkaya A, Utine GE, Boduroglu K. 2015. A diagnosis to consider in intellectual disability: Mowat-Wilson syndrome. Journal of Child Neurology; 31(7):913-917
How many babies are born with Mowat-Wilson syndrome?
Each year there may be between 50 to 80 babies born with Mowat-Wilson syndrome in the United States.