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The parents of an 18 month old girl suspected something was wrong when she failed learn to roll, sit, walk and talk. She was eventually diagnosed with Phelan-McDermid Syndrome. Sufferers may display characteristics similar to cerebral palsy and autism. They may also suffer additional medical problems such and seizures and esophageal reflux. The mother eventually wrote a book called “Stephanie's Story: Love Knows No Handicaps” which has been described by doctors as a must read for anyone with disabled children. Only 200 people worldwide are known to have the condition Phelan-McDermid Syndrome (also known as 22q13 deletion syndrome). It is a genetic condition of which there is believed to be many undiagnosed cases of.
Source: summary of medical news story as reported by The Enterprise
About: Only 200 people world wide diagnosed with rare disorder
Date: 24 December 2004
Source: The Enterprise
Author: Elaine Allegrini
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