Gardner's syndrome

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at June 28, 2016
StartGardner's syndrome

Gardner’s syndrome or simply Gardner syndrome is a rare genetic disorder that often results in a person developing benign (noncancerous) tumors in certain parts of the body. Most of the tumors form in the colon or in areas just outside of the colon. People with this condition have an increased risk of developing colon cancer.


Definition & Facts

Gardner’s syndrome is classified as a type of familial adenomatous polyposis (FAP), which is a disorder that causes extra growths known as polyps to form in the large intestine, rectum, and other parts of the gastrointestinal tract. Hundreds or even thousands of these growths can develop inside of a person’s body.

Males and females have an equal chance of inheriting the condition. It is believed that this condition affects 200,000 in the United States and is therefore rare. Statistically, Gardner syndrome occurs in about one in every 14,025 live births.

Most people with this disorder can live fairly normal lives but need to be under close medical supervision in order to avoid certain complications. There is almost a 100 percent chance of developing colon cancer if a patient over the age of 45 does not have any form of surgical intervention to remove certain colorectal polyps. However, patients who undergo surgical intervention before cancer can form have a five-year survival rate of almost 100 percent. 

Symptoms & Complaints

Symptoms of Gardner’s syndrome are often similar to those caused by other medical conditions. Some people with Gardner’s syndrome complain of having diarrhea and often find blood in stool or mucus in their stool. Other patients with this disorder may feel constipated or experience abdominal pain.

Unexplained weight loss may be another symptom of Gardner’s syndrome due to abnormal functioning within the gastrointestinal tract. This condition can also sometimes cause people to grow extra teeth (30% of people with this syndrome have abnormal teeth) and tumors on the skull.

Fibrous dysplasia, which causes scar-like tissue to develop in place of bone on the skull or lower jaw, can also be a symptom. Cysts, particularly epidermoid cysts and fibromas, may form on other parts of the body.

Other types of growths that may result from having Gardner’s syndrome include desmoid tumors, osteomas and sebaceous cysts. If colorectal cancer develops and other types of benign growths are additionally present in the gastrointestinal tract, the patient may also be diagnosed with having this disorder.

An eye disorder known as retinal pigment epithelium hypertrophy causes a flat, pigmented spot to form at the back of the eye on the outer retinal surface and could be another indicator of Gardner’s syndrome.


Gardner’s syndrome is a congenital disorder that is inherited and caused by genetic mutations. People with this disorder have a 50 percent chance of passing it to their offspring. A mutation in the adenomatous polyposis coli (APC) gene is linked to Gardner’s syndrome and causes benign tumors to sporadically grow for no apparent reason.

Mutations in the MUTYH gene are also common and result in disordered cell division. Desmoid tumors that form in some Gardner’s syndrome patients are often the results of a problem in the beta-canetin-1 pathway that causes too much of the protein to form.

Some researchers believe that the condition is specifically caused by an uncommon autoimmune response to red blood cells. There are also theories indicating that the disorder is linked to the way the body responds to psychological stress.

Diagnosis & Tests

This disorder is often diagnosed when large numbers of tumors are found in the gastrointestinal tract. A colonoscopy is a procedure that allows a doctor to view the inside of the intestines using a flexible tube, and this procedure is often effective in finding tumors that are linked to Gardner’s syndrome.

Blood tests can additionally be performed to look for mutations in the APC and MUTYH genes. Dentists are also sometimes able to help diagnose Gardner’s syndrome by noticing extra teeth or other abnormal bone growths inside the oral cavity.

Treatment & Therapy

There is no cure for Gardner’s syndrome, but complications can be minimized by following an effective treatment plan. Since this condition puts a person at a greater risk of developing colon cancer, a doctor will need to monitor the situation regularly to prevent any complications. People over the age of 12 who have been diagnosed with this condition should have a colonoscopy every one to two years.

The benign tumors that form as a result of having Gardner’s syndrome can usually be surgically removed before they become cancerous. Not having these tumors removed almost always results in the development of colon cancer, however. A surgical procedure known as a colectomy, which removes part of an intestine, may also be recommended if large numbers of growths are found in a particular area.

Sulindac is a nonsteroidal anti-inflammatory drug that can be prescribed to treat polyps that are still in the rectum following a colectomy. Chemotherapy in the form of a drug combination of doxorubicin with dacarbazine is also sometimes recommended to treat certain tumors and may be particularly beneficial after a colectomy.

There is also evidence that suggests that oral calcium supplements are effective in inhibiting the formation of new growths. A doctor may even choose to prescribe a COX-2 inhibitor to keep new growths from developing. Antiestrogen medicines have been known to be an effective treatment option as well. Some people with Gardner’s syndrome also elect to have bony growths that have formed in other parts of the body removed for cosmetic purposes.

Prevention & Prophylaxis

Due to the fact that it's genetic and inherited, Gardner’s syndrome is difficult to prevent. The main objective is to keep benign tumors from becoming cancerous, and this can be done through careful monitoring by a doctor.

People who are thinking of having children can have genetic testing performed to see if any genetic mutations linked to Gardner’s syndrome are present. Some medications can be prescribed to slow or prevent new tumor growth and treat some of the other symptoms associated with Gardner’s syndrome. Surgery is also sometimes needed to prevent new tumors from growing.