Gardner’s Syndrome (GS)

Medically Reviewed on 4/13/2023

What is Gardner’s syndrome?

Gardner's Syndrome (GS)
Gardner’s syndrome is characterized by intestinal polyps.

Gardner’s syndrome (GS) is a rare genetic disorder that affects the colon and rectum. GS is an inherited condition that runs in the family and is a subtype of familial adenomatous polyposis (FAP).

GS is caused by mutations in the APC gene, which normally suppresses the growth of polyps in the colon. Because of these mutations, the gene will lose the ability to control the speed and order of multiplication of cells in the body.

People with GS develop numerous polyps (small growths) in their colon and rectum. These polyps are usually benign, but they can become cancerous over time if left untreated. Moreover, polyps can develop in the stomach, small intestine, and other areas of the body.

Although GS and FAP are alike and are characterized by the development of numerous adenomatous polyps in the intestine, GS develops characteristic polyps in the colon, and osteomas (outgrowth on the bone) differentiate it from FAP.

The incidence of GS is 1 in 8,000 individuals worldwide. GS affects men and women equally and can occur in people of all ethnicities.

What causes Gardner’s syndrome?

Gardner’s syndrome (GS) is caused by mutations in the APC gene, which normally suppresses the growth of polyps in the colon. These mutations are inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from a parent to develop the condition. A child is 50 percent likely to inherit the abnormal gene and develop GS.

The cause of genetic mutations that lead to GS is unknown yet.

Not all people with APC gene mutations develop GS. The severity of the disorder varies from person to person. Although some people only develop a few polyps, others may develop hundreds or thousands. The probability of having colon cancer varies as well; some people develop the disease at a young age, whereas others may never develop it.

What are the symptoms of Gardner’s syndrome?

The symptoms of Gardner’s syndrome (GS) can vary widely depending on the individual but may include:

  • Polyps in the colon and rectum are usually benign (not cancerous) but can become cancerous over time if left untreated
  • Polyps in other parts of the body
    • Stomach
    • Small intestine
  • Osteoma (bony outgrowths)
  • Adrenal gland tumors (adenoma)
  • Skin abnormalities and benign soft tissue tumors
    • Cysts
    • Fibromas
    • Desmoid tumors
  • Dental abnormalities
    • Extra teeth
    • Osteomas in the jaw (bony outgrowths)
  • Congenital hypertrophy of the retinal pigment epithelium (pigmented spot on the retina of the eye)

GS may also cause other symptoms including:

However, many people with GS do not have any symptoms until the polyps become large or cancerous.

How is Gardner’s syndrome related to teeth and oral health?

Gardner’s syndrome (GS) can affect multiple parts of the body, including the teeth and jaw. Dental abnormalities are a common feature of GS and are present in about 30 percent of individuals with GS. These dental abnormalities include:

  • Crowding and misalignment of the teeth
    • The presence of extra teeth and missing teeth can cause crowding and misalignment of the teeth.
    • This can make it difficult to clean the teeth properly and increase the risk of tooth decay and gum disease.
  • Impacted teeth
    • The extra teeth and abnormal tooth development can lead to impacted teeth, where the teeth fail to emerge properly from the gum line.
    • Impacted teeth can cause pain, swelling, and infection.
  • Osteomas
    • Bony growths in the jaw. These can cause pain and discomfort and may require surgical removal.
  • Increased risk of oral cancer
    • People with GS may be at an increased risk of oral cancer due to multiple polyps in the colon and rectum.

People with GS must undergo regular dental exams to detect and prevent oral health issues at an early stage. Treatment options for dental abnormalities may include surgical removal of impacted teeth or osteomas, orthodontic treatment to realign misplaced teeth, and routine screening for oral cancer symptoms.

When and how is Gardner’s syndrome diagnosed?

Gardner’s syndrome (GS) is usually diagnosed in early adulthood, often between the ages of 16 and 25 years old. However, the age of diagnosis can vary widely depending on the individual and the severity of the condition.

Gardner syndrome is often diagnosed using a combination of clinical findings and genetic testing. If there is a known family history of the condition, a person may undergo genetic counseling and genetic testing to detect the presence of the mutant APC gene.

Clinical findings that may suggest GS include the presence of the following:

  • Multiple polyps in the colon and rectum
  • Skin abnormalities
  • Dental abnormalities
  • Congenital hypertrophy of the retinal pigment epithelium

Radiological imaging tests such as an X-ray, CT, and MRI can detect the presence of adenomas, osteomas, and polyps. Colonoscopies detect the presence of polyps in the colon and rectum.

Genetic testing and counseling can be helpful for individuals with a family history of GS to assess their risk of the condition and discuss options for prevention and management.

Early diagnosis and treatment of GS are important to help prevent complications and improve outcomes for people with the condition. As people with Gardener syndrome are to develop cancer at any point in their life, regular monitoring and management by a doctor can help reduce the risk of cancer. However, it is not entirely possible to prevent cancer.

How is Gardner’s syndrome treated?

The treatment of Gardner’s syndrome (GS) may involve a combination of surgical interventions, medications, and regular monitoring and screening to prevent complications and improve outcomes.

The following are the treatment options for GS:

  • Surgery
    • Surgical removal of polyps is often the primary treatment option for GS. People with GS may need frequent colonoscopies and surgical interventions to remove polyps in the colon and rectum to prevent colon cancer.
    • Surgical removal of the affected teeth or jaw growths may also be necessary.
  • Medications
    • Nonsteroidal anti-inflammatory drugs and cyclooxygenase-2 inhibitors may help reduce inflammation and prevent the growth of polyps.
    • In some cases, medication may be used in combination with surgery to help prevent the recurrence of polyps.
  • Lifestyle modifications
    • People with GS may benefit from making lifestyle modifications such as:

The treatment of GS aims to reduce the risk of complications and improve outcomes for people with the condition.

What is the life expectancy of Gardner’s disease?

The life expectancy of individuals with Gardner’s syndrome (GS) can vary widely depending on the severity of the condition and the effectiveness of treatment. The average life expectancy in untreated patients with GS is 45 years.

With early diagnosis and timely appropriate treatment and management, individuals with GS can live normal lives. Regular screening and surgical removal of polyps and affected tissue can help reduce the risk of colon cancer and other associated complications. The five-year survival rate for people who undergo proctocolectomy (removal of colon and rectum) for GS is almost 100 percent.

The life expectancy of an individual also depends on other factors, such as the presence of other associated conditions, the severity of symptoms, and the individual's overall health.

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Medically Reviewed on 4/13/2023
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