Only 200 people world wide diagnosed with rare disorder

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

Related Disease Topics:

• Genetic disorder
• Phelan-McDermid Syndrome
• 22q13 deletion syndrome
• Cerebral palsy
• Autism
• Disabled

Related Symptom Topics:

• Seizure
• Esophageal reflux

Article Source Details

About: Only 200 people world wide diagnosed with rare disorder

Date: 24 December 2004

Source: The Enterprise

Author: Elaine Allegrini

URL: http://enterprise.southofboston.com/articles/2004/12/27/news/news/news05.txt

Related Medical Topics

This summary article refers to the following medical categories:

• Undiagnosed
• Undiagnosed and genetic disorder
• Undiagnosed and Phelan-McDermid Syndrome
• Undiagnosed and 22q13 deletion syndrome
• Undiagnosed and cerebral palsy
• Undiagnosed and autism
• Undiagnosed and disabled
• Undiagnosed and seizure
• Undiagnosed and esophageal reflux

More News Topics

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