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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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Tests & Diagnosis

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Is genetic testing available for Gardner syndrome?

Yes, genetic testing is available for APC, the gene known to cause Gardner syndrome. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. Because colon screening for those at risk for Gardner syndrome begins as early as age ten years, genetic testing is generally offered to children by this age.[1]

The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated: 1/14/2015

How is Gardner syndrome diagnosed?

Gardner syndrome is diagnosed based on the following features:[1]
These symptoms are usually identified using a combination of physical examination, colonoscopy, and X-rays of the long bones and/or jaw bone. The presence of other signs and symptoms such as stomach or small intestinal polyps; congenital hypertrophy of the retinal pigment epithelium (a flat, pigmented spot within the outer layer of the retina); and/or associated cancers, supports the diagnosis.[1][2]

A diagnosis of Gardner syndrome can be confirmed by the identification of a disease-causing change (mutation) in the APC gene.[1]
Last updated: 1/14/2015

References
  1. Kory W Jasperson, MS and Randall W Burt, MD. APC-Associated Polyposis Conditions. GeneReviews. March 27, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1345/.
  2. Gardner syndrome. DermNet NZ. December 2014; http://www.dermnetnz.org/systemic/gardner.html.


Other Names for this Disease
  • Gardner's syndrome
  • Intestinal polyposis, osteomas, sebaceous cysts
  • Polyposis coli and multiple hard and soft tissue tumors
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.