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What is Mowat-Wilson Syndrome?

Mowat-Wilson Syndrome is a cognitive impairment syndrome associated with multiple health defects caused by a genetic mutation or deletion on the ZEB2 gene. Major signs of this rare genetic disorder include distinctive facial features, intellectual disability, delayed development, intestinal disorders, seizures, congenital heart disease, Agenesis of the Corpus Callosum, male genital abnormalities (hypospadias), and major expressive language difficulty.

Most Mowat-Wilson children are non-verbal. Speech is absent or severely impaired. 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 have delayed development of motor skills such as sitting, standing, and walking.

More than half of people with Mowat-Wilson Syndrome are born with an intestinal disorder called Hirschsprung’s disease which causes severe constipation, intestinal blockage, and enlargement of the colon. Chronic constipation also occurs frequently in people with Mowat-Wilson Syndrome who have not been diagnosed with Hirschsprung’s disease.

Although many different medical issues have been associated with Mowat-Wilson Syndrome, not every individual with this condition has all of these features. MWS children typically have friendly and happy personalities, despite their many difficulties. Children born with MWS will need intense medical attention and personal care throughout their entire lives.

It is important to note that MWS was discovered only recently (defined in 1998), and we are still learning about what physical, behavioral, and developmental issues are associated with MWS.

MWS Foundation Research Projects

The Foundation is currently sponsoring the following research projects:

University of Kansas Medical Center Research Project

Read about our research past, present and future research projects and learn how you can participate.



Share your story

MWS Foundation is accepting stories and photos of your child/adult with MWS for use in our publications, on our website, and in various other formats. We need stories of individuals of all ages, both genders, and all ethnic backgrounds. Email with your submission.

News & Events

Events: Join us at the 2015 MW Family Beach Day - August 16 - Waterford, CT - FREE to all MW Families. To participate, please fill the form


Our stories | Chase

Chase is now 14 years old. He is nonverbal but uses about 6 signs. He has been seizure free now for about 6 years, since he had his tonsils out. He has done so well we are starting to wean him off his seizure medication slowly.
Read more about Chase >

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