Gardner’s Syndrome

What is Gardner’s Syndrome?

Gardner’s Syndrome is a rare type of genetic disorder which is a subtype of familial adenomatous polyposis (FAP). It is distinguished by a variety of colorectal polyps and several kinds of tumors, both benign and non-cancerous growths. Affected individuals of this condition have an increased risk of developing colorectal cancer at an earlier age. Gardner’s syndrome could result to growths on different areas of the body but are most common in the colon, sometimes found in large numbers.

The condition occurs in approximately one out of 8,000 individuals. The condition is genetically transmitted as an autosomal dominant trait which indicates that the person who is affected with it has about 50% chance of passing on the gene to their children. The main risk of developing the condition is having at least one parent with Gardner’s syndrome.


Symptoms of Gardner Syndrome depend on one person to another. The primary symptom of the condition is multiple polyps that can be in the hundreds. The growths can start appearing at an average age of 16 and could become cancerous if the colon is not removed, resulting to early occurrence of colorectal cancer at an average age of 39 years old.

In addition, other clinical features may develop at this include:

  • Certain abnormalities of the teeth
  • Non-cancerous osteomas or bone growths
  • Bony skull tumors
  • Epidermoid cysts
  • Lipomas
  • Fibromas
  • Desmoid tumors
  • Adenomatous polyps of the small intestines or the stomach
  • Adrenal masses
  • Congenital hypertrophy of retinal pigment epithelium
  • Other forms of cancer such as colon cancer


Gardner syndrome is a hereditary condition which means that the disease can be passed on from generation to generation within a family. The adenomatous polyposis coli (APC) gene is accountable for the production of APP protein and the regulation of cell growth.

APC protein can also prevent the cells from rapidly dividing. Individuals with Gardner’s syndrome have a certain defect in the APC gene. A mutation or an alteration in the APC gene affects cell growth, which results to abnormal growth of tissue. The alteration of the APC gene increases the chances of a person to develop non-cancerous tumors, polyps, and cancer. What causes the gene mutation is still not known.


A normal cell contains two copies of each gene: one inherited from the father and another one inherited from the mother. In Gardner syndrome, the pattern of inheritance by this syndrome is through an autosomal dominant form, wherein the mutation takes place in only a single copy of the gene. A parent could then pass a normal copy of the gene or the gene with the mutation.

As a result, a child who has a mother or a father with the mutation has a 50% risk of inheriting that gene mutation. There is also a 50% chance of inheriting the exact mutation with a sister, brother, or parent of an individual who has the gene mutation.

Some options are available for those couples who are still interested in having a child even if they are aware that one of them is carrying a gene mutation that can increase the chance for this genetic cancer syndrome. PGD or Preimplantation Genetic Diagnosis is a type of procedure that is used in identifying genetic defects in conjunction with in-vitro fertilization (IVF) to prevent certain diseases from being inherited to the child.

This will allow individuals who have a specified gene mutation to produce children who will not be carriers of the same mutation. The process is done by the removal of the woman’s eggs and fertilizing it in a laboratory. When the embryos attain the desired size, one cell is taken out and tested for the specific hereditary condition. Both parents could then select to transport embryos that do not contain the mutation. For further information or questions, talk with a reproduction specialist at a fertility clinic.


Because individuals with Gardner’s syndrome have an increased chance of developing colon cancer, treatment options is typically directed at preventing this.

Treatment options may include:

  • COX2 inhibitor – This is a medication that may be used to control the growth of colon polyps though the medication is not successful all the time.
  • Watchful waiting – It is an approach in which time is allowed to pass before any other interventions is done. Repeated testing might also be performed.
  • Colectomy – In some cases, a surgical procedure is required to remove the colon in order to prevent the development of colon cancer.
  • Sulindac – It is a nonsteroidal anti-inflammatory drug (NSAIDs) that is occasionally prescribed by the physician for those individuals who have had a colectomy procedure to treat some polyps in the remaining rectum.

Like all the other medical diseases, a healthy lifestyle along with proper stress-reduction activities, exercise, and nutrition can greatly help people with the Gardner’s syndrome to deal with associated emotional and physical problems.


The prognosis for individuals with Gardner’s syndrome widely depends, varying on how severe the symptoms are. The rate of developing a color cancer is very high for those who have the APC gene mutation. Without surgery, majority of people with the mutation will develop colon cancer. However, if an early diagnosis is done together with high-risk management of the syndrome, the prognosis is good.


Gardner’s Syndrome


Gardner’s Syndrome


  4. Juhn E, Khachemoune A (2010). Gardner syndrome: skin manifestations, differential diagnosis and management. Am J Clin Dermatol. 11(2):117-22.
  5. Gu GL, Wang SL, Wei XM, et al (2008 Apr 7). Diagnosis and treatment of Gardner syndrome with gastric polyposis: a case report and review of the literature. World J Gastroenterol. 14(13):2121-3.
  6. Filippakis GM, Zografos G, Pararas N, et al (2007 Jul). Spontaneous regression of rectal polyps following abdominal colectomy and ileorectal anastomosis for familial adenomatous polyposis, without sulindac treatment: report of four cases. Endoscopy. 39(7):665-8.

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