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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Gardner syndrome


Other Names for this Disease
  • Gardner's syndrome
  • Intestinal polyposis, osteomas, sebaceous cysts
  • Polyposis coli and multiple hard and soft tissue tumors
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Overview



What is Gardner syndrome?

How is Gardner syndrome inherited?

Is genetic testing available for Gardner syndrome?


What is Gardner syndrome?

Gardner syndrome is a rare, genetic disorder characterized by multiple growths (polyps) in the colon (often 1,000 or more), extra teeth (supernumerary), bony tumors of the skull (osteomas), and fatty cysts and/or fibrous tumors in the skin (fibromas or epithelial cysts). Gardner syndrome is a variant of familial adenomatous polyposis (FAP), a rare group of disorders characterized by the growth of multiple polyps in the colon.[1]
Last updated: 6/2/2011

How is Gardner syndrome inherited?

Gardner syndrome is inherited as an autosomal dominant trait, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.[2]
Last updated: 6/2/2011

Is genetic testing available for Gardner syndrome?

Yes, genetic testing is available for Gardner syndrome. Genetic testing can be used to clarify the genetic status of at-risk family members when a clinically diagnosed relative has undergone molecular genetic testing and is found to have a mutation in the APC gene.[1] Consideration of molecular genetic testing of young, at-risk family members is appropriate for guiding medical management. Because colon screening for those at risk for Gardner syndrome begins as early as age ten years, molecular genetic testing is generally offered to individuals by this age.[1]
Last updated: 6/2/2011

References
  1. Randall RW, Jasperson JW. APC-associated Polyposis Conditions. GeneReviews. July 24, 2008; http://www.ncbi.nlm.nih.gov/books/NBK1345/. Accessed 6/2/2011.
  2. Familial adenomatous polyposis. Genetics Home Reference. April 2008; http://ghr.nlm.nih.gov/condition/familial-adenomatous-polyposis. Accessed 6/2/2011.