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Gardner syndrome

Overview

Gardner's syndrome is a genetic disorder characterized by the presence of multiple polyps in the colon together with tumors outside the colon. The extracolonic tumors may include osteomas of the skull, thyroid cancer, epidermoid cysts, fibromas and sebaceous cysts. The countless polyps in the colon predispose to the development of colon cancer.

Symptoms - Gardner syndrome

There are no specific symptoms. If the polyps become very large, they may cause intestinal bleeding, Intussusception, or Intestinal Blockage. Otherwise, they may not cause any symptoms. People with this disease also have a higher risk of developing dermoid tumors, abnormalities of the retina, skin tumors, and bone tumors. The intestinal polyps usually appear by the early to mid teenage years. By age 35, almost all with this disease will have polyps.

Causes - Gardner syndrome

Gardner's syndrome is now known to be caused by mutation in the APC gene located in chromosome 5q21 (band q21 on chromosome 5). This is the same gene as is mutant in familial adenomatous polyposis (FAP), a more common disease that also predisposes to colon cancer.

Prevention - Gardner syndrome

There is no specific way to prevent this disease. Cancers associated with this disease can be detected early through routine doctor visits.

Diagnosis - Gardner syndrome

Gardner's syndrome can be identified based on oral findings, including multiple impacted and supernumerary teeth, multiple jaw osteomas which give a "cotton-wool" appearance to the jaws, as well as multiple odontomas, congenital hypertrophy of the retinal pigment epithelium (CHRPE), in addition to multiple adenomatous polyps of the colon.

Prognosis - Gardner syndrome

Not supplied.

Treatment - Gardner syndrome

There is no specific treatment for this disease. People with this disease have a very high risk of developing cancer. In fact, almost all with this disease will develop cancer by the time they turn 50. Therefore, those with this disease need to be checked and screened very carefully and very often for any abnormalities.

Resources - Gardner syndrome

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