Hirschsprung's and Mental Retardation
(Globally Delayed)

Our grandson, Chase, was born 30 days premature. He was diagnosed with Hirschsprungs Disease, Cryptorchidism, dysmorphic facial features, microcephaly, patent ductus arteriosus, and pulmonic stenosis.  He was in the NICU for 25 days.  At 5 days he had a colostomy and at 10 days a PDA ligation.  One week after he came home, he had to go back in the hospital for pyloric stenosis and have that corrected surgically.  At 4 months old he had pull through surgery to close the ostomy and reconnect his colon. As he grew it became obvious that he was not progressing normally. We got him involved with early intervention programs, physical, occupational and speech therapy. We were given several different diagnosis's including Angelman  and Shaw Waardenburg syndromes, but none seemed to him fit completely. Finally his pediatrician suggested we take him to Cedars-Sinai Hospital for genetic testing. The head of the genetics department was convinced that Chase had a rare and relatively unknown syndrome call Mowat-Wilson. That diagnosis has since been confirmed through DNA testing. I'm posting this webpage in hopes of making people that have children diagnosed with Hirschsprungs Disease and are developmentally delayed aware of this syndrome.
For more information please visit our Mowat-Wilson.org website by clicking on the link.

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