Thursday, September 8, 2011

Gardner Syndrome

      “A disease is rare if fewer than 200,000 people in the United States have it. There are close to 7,000 rare diseases and about 25 million people in the U.S. have one. Many rare diseases are caused by changes in genes and are called genetic diseases.”
       Gardner Syndrome is classified as a “rare diseases” according to Genetic And Rare Disease Information Center (GARD).  This syndrome is characterized by extra teeth, multiple growths in the colon, fatty cysts in the skin, and bony tumors of the skull.  Gardner syndrome is inherited as an autosomal dominant trait, which means that one copy of the altered gene in each cell is able to cause the disorder.  Most cases however, an affected person has the condition. There is genetic testing available for the disorder which can be used to clarify the genetic status of at-risk family members when a relative has undergone molecular genetic testing and has been found to have the mutation.  At this very time this is no cure for Gardner syndrome and in some of its more advanced forms; it is considered a terminal diagnosis with a life expectancy of 35-45 years.

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