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Mowat-Wilson Syndrome is a recently defined mental retardation syndrome (1998) usually associated with multiple health defects and recognizable facial properties caused by a genetic mutation. The major health defects include Hirschsprung's Disease (although not in all cases), intellectual disabilities, seizures, congenital heart disease, Agenesis of the Corpus Callosum, male genital abnormalities (hypospadias) and smaller than normal heads.  Facial properties include prominent narrow chin, open mouth, cupped ears with protruding lobes, broad nasal bridge with rounded nasal tip, and wide set eyes.

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Hirschsprungs Disease with Mental Retardation