Reviewed By: Pramod Kerkar, MD, FFARCSI

What is Gardner Syndrome?

Gardner syndrome is an extremely rare genetic pathological condition which is characterized by development of benign growths usually in the colon which over time as the disease condition progresses may cause colon cancer. The growths caused by Gardner syndrome can occur in any area of the body but are mostly commonly found in the colon. Additionally, the affected individual can have development of fibromas and sebaceous cysts. In some cases, individual can also have lesions in the retina that affects the vision as well due to Gardner syndrome.

What is Gardner Syndrome?

What are the Causes of Gardner Syndrome?

The root cause of Gardner syndrome is a mutation in the APC gene. The function of this gene is to produce APC protein which controls the growth of cells in the body.

A mutation in the APC gene results in malfunction of the APC proteins and the growth of cells becomes abnormal causing the growths seen in Gardner syndrome. There is no clear cause for the mutation in the APC gene seen with Gardner syndrome.

What are the Symptoms of Gardner Syndrome?

Some of the symptoms of Gardner syndrome are:

  • Abnormal growths in the colon which increase in size and numbers as the condition advances
  • Development of extra teeth
  • Tumors of the bones in the skull
  • Sebaceous cysts
  • Development of fibromas
  • Pain in the abdominal area as a result of polyps.

How is Gardner Syndrome Diagnosed?

The diagnosis of Gardner syndrome begins with taking the history of the patient along with a detailed physical examination. A lower GI endoscopy may also be done which will clearly show polyps which may range in hundreds.

When all other causes for the polyps have been ruled out a molecular test may be conducted which will clearly show a mutation in APC gene confirming the diagnosis of Gardner syndrome.

How is Gardner Syndrome Treated?

Since an individual with a known diagnosis of Gardner syndrome is at risk for developing colon cancer the treatment is basically aimed at preventing this. Regular colon screenings are a necessity for individuals with Gardner syndrome.

If the number of polyps is way too high then a polypectomy may need to be performed to remove the polyps. Medications such as NSAIDs also aid in preventing development of colonic polyps.

In cases of extra teeth as a result of Gardner syndrome, removal of the extra teeth is recommended. Individuals with this condition are recommended to take a balanced diet, avoid spicy foods, and avoid stressful situations so as to cope up with a condition like Gardner syndrome.

Pramod Kerkar

Written, Edited or Reviewed By:

, MD,FFARCSI

Pain Assist Inc.

Last Modified On: November 2, 2017

This article does not provide medical advice. See disclaimer

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