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Gardner Syndrome

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What is Gardner syndrome?

Gardner syndrome is a subtype of familial adenomatous polyposis (FAP or classic FAP). In people with Gardner syndrome, masses of noncancerous tissue tend to form in many different organs, such as:

Multiple adenomatous colon polyps. An adenomatous polyp is an area where the normal cells that line the inside of the colon and begin to make mucous and form a mass on the inside of the intestinal tract.

Benign (noncancerous) tumors, including:

sebaceous cysts (closed sac filled with liquid found under the skin)

epidermoid cysts (lumps in or under the skin often filled with liquid)

fibromas (fibrous tumors)

desmoid tumors (fibrous tumors that can develop anywhere in the body)

osteomas (bony growths, usually found on the jaw)

People with Gardner syndrome also have a higher risk of developing colorectal cancer and other FAP-related cancers. Other features of Gardner syndrome that are similar to classic FAP include extra or unerupted teeth and congenital (present at birth) hypertrophy of the retinal pigment epithelium (CHRPE), an eye condition that does not affect vision but which a doctor can find by doing an examination with a special instrument called an ophthalmoscope.

What causes Gardner syndrome?

Gardner syndrome is a genetic condition. This means that the risk of Gardner syndrome can be passed from generation to generation in a family. The APC gene is linked to Gardner syndrome; APC stands for adenomatous polyposis coli. A mutation (alteration) in the APC gene gives a person an increased lifetime risk of developing polyps, benign tumors, and cancer.

How is Gardner syndrome inherited?

Normally, every cell has two copies of each gene: one inherited from the mother and one inherited from the father. Gardner syndrome follows an autosomal dominant inheritance pattern, in which a mutation happens in only one copy of the gene. This means that a parent with a gene mutation may pass along a copy of their normal gene or a copy of the gene with the mutation. Therefore, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. A brother, sister, or parent of a person who has a gene mutation also has a 50% chance of having the same mutation.

How common is Gardner syndrome?

Gardner syndrome is considered to be rare.

How is Gardner syndrome diagnosed?

A person with multiple adenomatous colon polyps and/or colorectal cancer along with some of the benign tumors listed above is suspected of having Gardner syndrome. People suspected to have Gardner syndrome can have a blood test to look for a mutation in the APC gene. If an APC gene mutation is found, other family members may be diagnosed with Gardner syndrome if they are tested and have the same gene mutation.

What are the estimated cancer risks associated with Gardner syndrome?

The cancer risks for Gardner syndrome are similar to those for classic FAP. Cancer risks for classic FAP include:


Colorectal cancer

almost 100% if not treated

Small bowel (intestines)

4% to 12%

Pancreatic cancer


Papillary thyroid cancer


Hepatoblastoma (a type of liver cancer)


Brain or central nervous system tumor

less than 1%

Stomach cancer


Bile duct cancer

small, but increased

Adrenal gland cancer

small, but increased

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