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Support, Research and Advocacy for Rare and Special Families

OUR MWS STORIES BY LOCATION

We are currently rebuilding this entire section of the site to make it easier to read and share stories with our families. We will notify you when the stories are ready to explore! If you would like to share your story, please email jessicar@mowat-wilson.org.

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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. Watch the video below about the discovery of the syndrome and a boy named Max, a must watch.

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