Gardner's Syndrome

By: Manasi Kunte

History

Gardner's Syndrome is also known as Intestinal Polyposis and is classified as a subtype of benign or non-cancerous growth. This genetic disorder is basically when there are multiple polyps (abnormal tissue growth) in the colon along with tumors outside of the colon. The word colon is another name for the large intestine, which explains the origin of its name. The term Gardner's Syndrome was coined after Eldon J. Gardner, a geneticist who described the term in 1951.

Diagnosis

This disorder is Autosomal Dominant, which means it is not sex-linked, or that it is only seen in one sex (male or female). It has been found that Gardner Syndrome is a mutation found in the APC gene on chromosome 5q21 (band q21 on chromosome 5). It is a disorder that can, in serious cases, lead to colon or skin cancer.

Signs/ Symptoms

Signs:

  • diarrhea
  • abnormal mouth (teeth) pains
  • abnormal bone growth


Symptoms:

  • multiple growths in the colon (usually in the 100's)
  • extra teeth development
  • bony tumors on the skull
  • cysts (hollow organ containing fluids)

Treatment

Treatment is aimed specifically at trying to keep cancer cells from developing in the patient's body. There are remedies for this purpose such as, the medication of COX2 inhabiter. This certain medication is used to limit the polyps growth, however it is not always successful. There is always a strict monitoring of the growth of polyps to make sure they do not become deadly. In serious cases, removal of the colon is suggested. Also if dental abnormalities are present, treatment for that is also prescribed.