Children with Mowat-Wilson Syndrome (MWS) often have distinctive facial features:
• Hypertelorism (eyes that are far apart)
• Broad inner eyebrows with sparse and irregular middle part
• Prominent columella (prominent nostrils)
• Prominent or pointed chin
• Raised earlobes with a central depression
Other common clinical features include:
• Epilepsy
• Microcephaly (smaller-than-normal head circumference)
• Short stature
• Genitourinary abnormalities (particularly hypospadias in males, i.e. opening of the urethra below the tip of the penis)
• Congenital heart defects (born with abnormalities of heart structure)
• Anomalies of corpus callosum (a structure that connects the two cerebral hemispheres)
• Hirschsprung disease (HSCR, a defect in the bowel nerves causing constipation and partial or total obstruction of the bowels; constipation may also occur regardless of HSCR)
• Cryptorchidism (at least one testicle failed to descend into the scrotum)
Basic growth parameters (weight, length or height, head circumference) are often normal at birth, but have a tendency to fall below the normal range during childhood and adolescence.
Affected individuals have moderate to severe intellectual disability. Expressive language is typically limited to a few words or is absent, but receptive language (i.e. comprehension skills) can be relatively good. In some rare children, language skills develop fairly well.
Most of the children with MWS have a serene, affectionate and generally happy demeanor.
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