Gardner's syndrome
Gardner's Syndrome
Gardner's syndrome (pronounced: gahr-dnerz sin-drohm) is a rare genetic disorder. It is a variant of a condition known as familial adenomatous polyposis (FAP).
Etymology
The syndrome is named after Eldon J. Gardner, an American geneticist who first described the condition in 1951.
Definition
Gardner's syndrome is characterized by the presence of multiple polyps in the colon together with tumors outside the colon. These extra-colonic tumors may include osteomas (benign bone tumors), desmoid tumors, and other benign or malignant tumors.
Symptoms
Symptoms of Gardner's syndrome may include abdominal pain, diarrhea, blood in the stool, and weight loss. The polyps in the colon can become cancerous if not removed.
Diagnosis
Diagnosis of Gardner's syndrome can be confirmed through genetic testing, as the condition is caused by mutations in the APC gene. Other diagnostic methods may include colonoscopy or sigmoidoscopy to detect polyps in the colon.
Treatment
Treatment for Gardner's syndrome typically involves surgery to remove the polyps and prevent colon cancer. Other treatments may be necessary depending on the types and locations of extra-colonic tumors.
Related Terms
External links
- Medical encyclopedia article on Gardner's syndrome
- Wikipedia's article - Gardner's syndrome
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