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Vincent's Home Page

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Littleton CO
United States 80123
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Description

Cri du Chat (KREE doo SHAH) Syndrome is a chromosomal disorder where the short arm of the fifth chromosome is lost from the first cell of life. All of our genes are attached to chromosomes. So when a piece of a chromosome is lost, so is a piece of the genetic code that makes us who we are. In approximately 90 percent of cases, including Vincent's, both parents are chromosomally normal and the deletion occurs spontaneously for reasons that geneticists cannot yet explain.

The syndrome is rare. Estimates of its occurrence range from one in 30,000 to one in 50,000 live births. Undoubtedly this accounts for the relative paucity of information on Cri du Chat, as compared to more commonly known chromosomal disorders such as Down's Syndrome.

Like most chromosomal disorders, Cri du Chat presents an array of developmental challenges -- intellectual as well as physical. Mental retardation ranges from mild to severe, with most cases falling into the moderate range. Communication is the most significant challenge for persons with this syndrome. Some form of sign language is a must. Physical development is impaired primarily by low muscle tone, which underscores the importance of early intervention in the form of physical therapy. It is considered exceptional for a child with this syndrome to walk before 3 years old. Some people with the syndrome are never able to walk at all.

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