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Gardner’s Syndrome – Symptoms, Causes, Diagnosis, Pictures, Treatment

What is Gardner’s Syndrome?

This medical disorder is associated with your colon in which a person will have several polyps in their colon and over time tumors will start to develop outside your colon. This medical disorder was first identified in 1951 by Eldon J. Gardner, a professor and geneticist. The basics of what Gardner’s Syndrome first presented still holds true even though over time research has found more information about this medical disorder. Most of this new information has come about from being able to understand the part that genetics play in the transmission of health issues and diseases from one generation to the next generation.


It is a rare medical disorder and if the polyps that are in your colon can become cancerous so that is why it is important to monitor and treat them. The number of polyps in your colon will increase as you get older and can number in the hundreds to thousands. It can affect anyone from age two months to seventy years of age and occurs in one in eight thousand people.

Gardner’s Syndrome Symptoms

There are several different symptoms that a person who has Gardner’s Syndrome might have but the two most common symptoms are:

  • One of the most common symptom is having impacted teeth and possible the presence of osteomas, which is a benign tumor that is usually found next to or in bones, in the area of your jaw.
  • Inflammation of your colon which is manifested by having trouble eliminating waste and having a sense of feeling full for a long period of time.

These symptoms will start to become more pronounced as the polyps and tumors start to become larger. If you do not have this medical disorder treated it could cause damage to your bowels and also set the stage for the tumors to spread to other parts of your body.

Other symptoms that a person might experience can include:

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  • Skin tumors
  • Skin cysts on various areas of your body called Epidemoid Cysts.
  • Pain in your abdominal area
  • Blood in your stool
  • Anemia
  • Having a change in your bowel habits like diarrhea, constipation, or stool that appears abnormal
  • Weight loss
  • Growing extra teeth
  • Having bony tumors on your skull

Causes

This medical disorder is caused by a mutation of the gene called adenomatous polyposis coli (APC). It can be passed to the fetus from either the mother or the father. In each cell there are two copies of each gene. If the mother or father has Gardner’s Syndrome and only one copy of the gene has been affected there will be a fifty percent chance that the affected version of this gene will be passed onto the fetus. If the mother and father both have one of these mutated genes there is a twenty-five percent chance the fetus will get both of the mutated genes. It is a form of familial adenomatous polyposis (FAP) that causes several tumors that are benign to grow on the inside of your intestinal tract. The cells that are in your intestinal lining will combine and form growths and by the time the person is in their mid-thirties, they will usually have in their colon multiple adenomatous polyps. In addition, most people who have the APC gene mutation will develop colon cancer by the age of forty without surgical treatment. People who have this APC gene mutation start having these polyps form at puberty and the average age of diagnosis this medical condition is around the age of twenty-five.

Diagnosis

To diagnosis Gardner’s Syndrome it will usually involve having tests done in order to assess the condition of your colon. If the physician discovers that there are polyps and tumors it will be necessary to do some type of surgery to get samples and have them tested to see if they are malignant, cancerous, or benign, non-cancerous. With the modern technology of today the physician can usually get the samples they need using techniques that are minimally invasive. The physician can also look at your teeth to see if you have any impacted teeth or if you have any osteomas on your jaw. Your physician may also have a blood test done to look for any mutations in your APC gene. They can also take an image of your long bone to see if there osteomas present. If you go to the dentist regularly and have images done of your mandible at an early age the dentist may be able to see subtle defects. You should also every one to two years have a colonoscopy done, especially if you have one or both parents with Gardner’s Syndrome or a history of it in the family.

Treatment

If this medical disorder is not treated it can lead to a significant increase in the risk of developing cancer such as stomach cancer, colorectal cancer, and other cancers. At this time there is no cure for Gardner’s Syndrome so your physician will either opt to remove the polyps and tumors or take a “wait-and-see” attitude and just monitor your condition. Many times your physician will send you to a surgeon who will remove a portion of your colon. Your physician have you take non-steroidal anti-inflammatory medications either over-the-counter or by prescription for the pain.

Gardner’s Syndrome Pictures

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