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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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Your Question

My mother-in-law has been diagnosed with Gardner syndrome. How is this syndrome inherited? Is there a genetic test to find out if my wife, and eventually our children, are affected with Gardner syndrome?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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

How can my family access genetic testing for Gardner syndrome?

GeneTests lists the names of laboratories that are performing genetic testing for Gardner syndrome. To view the contact information for the clinical laboratories conducting clinical testing, click herePlease note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Last updated: 6/2/2011

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 10/18/2013