Juliet Cohen

Detailed Information on Mowat-Wilson Syndrome

Mowat-Wilson syndrome is frequently related with an unusually small head (microcephaly), structural brain abnormalities, and mental retardation ranging from moderate to severe. Speech is absent or severely impaired, and affected people may learn to speak only a few words.

Mowat-Wilson syndrome is a inherited condition that affects several parts of the body. Mowat-Wilson syndrome is a mental retardation-multiple congenital anomaly syndrome characterized by a typical facies, developmental delay, epilepsy, and variable congenital malformations, including Hirschsprung disease, urogenital anomalies, congenital heart disease, and agenesis of the corpus callosum. Distinctive physical features include microcephaly, narrow chin, cupped ears with protruding lobes, deep and widely set eyes, open mouth, wide nasal bridge and a shortened philtrum.

This disorder is sporadic and is caused by heterozygous mutations or deletions of the ZFHX1B gene located in the 2q22 region.  However, some of those affected by the disease do not have abnormalities of this gene that are currently detectable. Many people with this condition can understand others' speech, however, and some use sign language to communicate.

If speech develops, it is tardy until mid-childhood or later. Children with Mowat-Wilson syndrome also have delayed development of motor abilities such as sitting, standing, and walking. More than half of people with Mowat-Wilson syndrome are born with an intestinal disorder called Hirschsprung disease that causes severe constipation, intestinal blockage, and enlargement of the colon. Other features of Mowat-Wilson syndrome include short stature, seizures, heart defects, and abnormalities of the urinary tract and genitalia. Mowat-Wilson syndrome can also affect the eyes, teeth, hands, and skin coloring (pigmentation).

Although various different medical issues have been linked with Mowat-Wilson syndrome, not every individual with this condition has all of these features. There is no cure for this syndrome. Treatment is supportive and symptomatic. Treatment of manifestations care by the appropriate specialist for dental anomalies, seizures, ocular abnormalities, congenital heart defects, chronic constipation, Hirschsprung disease, genitourinary abnormalities, and pectus anomalies of the chest and/or foot/ankle anomalies; educational intervention and speech therapy beginning in infancy.

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