What Is Gardner Syndrome?
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Gardner Syndrome - Symptoms, Causes, Diagnosis, and Treatment

Published on Nov 17, 2022 and last reviewed on Jan 25, 2023   -  5 min read


Gardner syndrome is a rare condition that causes multiple growths in the large intestine. To know more, read the following article.


Gardner syndrome is a condition that is characterized by multiple growths in the colon called colon polyps and several types of cancerous and noncancerous tumors. It is a type of familial adenomatous polyposis (FAP). It was in 1951 that Gardner described the occurrence of familial adenomatous polyposis with extracolonic manifestations. The features of familial adenomatous polyposis include the presence of multiple adenomatous large bowel polyps and the inevitable development of colorectal carcinoma. Gardner syndrome includes dental abnormalities, bone growth, skin abnormalities, and desmoid tumors. In patients with Gardner syndrome, there is an increased risk of developing another familial adenomatous polyposis like those of the stomach, pancreas, small bowel, thyroid, liver, bile ducts, and adrenal glands.

What Is Gardner Syndrome?

Gardner syndrome is a form of familial adenomatous polyposis (FAP) characterized by the presence of multiple colon polyps and other cancerous and noncancerous tumors. It is a congenital condition. Individuals with Gardner syndrome have an abnormality in the APC (adenomatous polyposis coli) gene. Gardner syndrome is a rare condition that affects one out of one million people. Most people with this syndrome begin to develop polyps around the age of 16. The average age of diagnosis of this syndrome is 22 years, while the tumor may arise at other ages. Gardner syndrome is an inherited condition, and there is no known way to prevent it from occurring. Nevertheless, early diagnosis and proper management of this syndrome can significantly reduce the risk of developing related cancers. The long-term prognosis of Gardner syndrome depends on the age of diagnosis and the experienced symptoms.

What Are the Signs and Symptoms of Gardner Syndrome?

The most common sign of Gardner syndrome is the development of multiple colon polyps. The number of colon polyps may vary from person to person, and some might develop hundreds of them. Symptoms may vary for each individual as Gardner syndrome affects different people in different ways. Other signs and symptoms of Gardner syndrome are:

What Is the Cause of Gardner Syndrome?

Gardner syndrome is a genetic condition which means it is caused by one or more genes not working properly. It is assumed to be caused by a mutation of the APC (adenomatous polyposis coli) gene. The APC protein helps in regulating cell growth by preventing the cells from dividing in a disorderly way or too fast. A defect in the APC gene leads to abnormal tissue growth. However, the cause of this gene mutation is still unknown.

How to Diagnose Gardner Syndrome?

The diagnostic test for the diagnosis of Gardner syndrome are:

  • Blood Tests - This includes complete blood count, carcinoembryonic antigen testing, and liver function test to check for metastasis. It also includes testing for leukocytes to check for APC and its mutations.

  • CT (Computed Tomography) Scan of the Abdomen and Pelvis - This test uses a narrow beam of X-rays and high-powered computers to create cross-sectional images of the abdomen and pelvic area. This test helps in proper visualization of the growth in the large intestine.

  • Colonoscopy - This test helps in examining the large intestine and rectum. It uses a flexible thin tube with an attached camera and light called a colonoscope to examine the inside of the gastrointestinal tract.

  • Esophagogastroduodenoscopy (EGD) - This is a diagnostic test that visualizes the upper part of the gastrointestinal tract. This procedure uses a thin, flexible tube with an attached camera and light at the end called an endoscope.

  • Panoramic Dental Radiography - It uses a small dose of ionizing radiation to create an image of the oral cavity that helps in evaluating dental anomalies.

  • Slit-lamp Examination and Indirect Ophthalmoscopy - These tests are performed to evaluate for congenital hypertrophy of the retinal pigmented epithelium (CHRPE).

  • Skull and Chest Radiography - These X-rays are performed to check for osteomas.

What Are the Treatment Options for Gardner Syndrome?

The treatment plan for Gardner syndrome involves close monitoring to make sure the colon polyps do not become malignant (cancerous). Treatments for Gardner syndrome include medical therapy, surgical treatments, dental procedures, or a combination of methods.

1. Medications - Medicines such as Celecoxib or Sulindac may be prescribed to help in the slow growth of colon polyps.

2. Dental Procedures - The dental anomalies due to Gardner syndrome can be treated by dental procedures specific to the problem.

3. Surgical Treatments - The surgical procedure options include:

  • Colectomy - It is performed to reduce the risk of developing cancer if more than 20 to 30 polyps are discovered. This surgery involves the removal of a part of the colon or the whole of the colon.

  • Proctocolectomy - This surgery is recommended in some cases and involves the removal of the colon and most of the rectum. Without these two parts, the doctor has to create a new pathway for the excreta to come out. This surgery has a good survival rate.

  • Treatment of Desmoid Tumors - The treatment depends on the location and size of the mass. The treatment plan may include surgical procedures, radiation therapy, chemotherapy, or careful monitoring. The desmoid tumors can be aggressive, although they are noncancerous. Desmoid tumors can grow into nearby structures and organs.

What Are the Complications of Gardner Syndrome?

  • Hemorrhage - Multiple colon polyps can cause bleeding in the large intestine and rectum.

  • Perforation - Colon polyps may lead to a hole in the lining of the intestine.

  • Obstruction - Obstruction can be caused due to the growth of multiple colon polyps in which the digested material is prevented from passing normally through the intestine.

  • Cancer - Patients with Gardner syndrome have a high risk of developing colorectal cancer early in life.


Gardner syndrome is a rare condition that affects the large intestine. It is an inherited condition and is caused by a mutation in the APC gene. Despite the fact that there is no known cure for it, there are ways to manage the symptoms and reduce the risk of cancer. The long-term prognosis of Gardner syndrome depends on the symptoms and age of the diagnosis.

Frequently Asked Questions


What Is Gardner Syndrome?

The following conditions characterize Gardner syndrome; they are:
- Supernumerary teeth.
- Desmoid tumors.
- Osteomas of long bones.
- Intestinal polyps.
- Adrenal gland tumors.
- Epithelial cysts.


What Is the Distinction Between Gardner Syndrome and FAP?

FAP (familial adenomatous polyposis) is an inherited autosomal dominant condition in which numerous glandular benign adenomas (tumors) occur as adenomatous polyps in the epithelium of the large intestine. Gardner syndrome is characterized as a type of FAP (familial adenomatous polyposis) along with other conditions.


Is Gardner Syndrome Treatable?

The management of Gardner syndrome includes treating various conditions while simultaneously watching out for any cancerous development in them. The treatment modalities include the following:
- Medications.
- Dental procedures.
- Surgical procedures.


How Long Do Gardner Syndrome Patients Live?

Gardner syndrome patients are diagnosed with colon cancer at an average age of 39. Gardner syndrome can be a life-threatening condition without treatment, and nearly all patients will develop colon cancer at some point. The age of diagnosis and the symptoms present determines the long-term prognosis.


How Is Gardner’s Syndrome Identified?

Gardner syndrome is distinguished in the following ways.
- Oral Findings:
- Multiple impacted and supernumerary teeth.
- Multiple jaw osteomas.
- Cotton-wool appearance of the jaws.
- Multiple odontomas.
- Congenital hypertrophy of the retinal pigment epithelium (CHRPE).
- Desmoid tumors.
- Osteomas of long bones.
- Multiple adenomatous polyps of the colon.


Is Gardner Syndrome Potentially Fatal?

Gardner's syndrome is a familial adenomatous polyposis (FAP) that begins as a noncancerous or benign tumor. However, there is a high chance for noncancerous tumors to become malignant if they are not properly diagnosed and managed.


Is FAP Carcinogenic?

According to research, it has been found that people with familial adenomatous polyposis (FAP) have a nearly 100% chance of developing colorectal cancer, and up to 12% of FAP patients develop duodenal cancer. As a result, people with familial adenomatous polyposis (FAP) must have regular endoscopic monitoring and polyp removal.


How Does FAP Testing Work?

Familial adenomatous polyposis (FAP) testing is done by inserting a flexible tube into the rectum to examine the rectum and sigmoid at the colon's last two feet. The American College of Gastroenterology recommends annual sigmoidoscopy beginning at 10 to 12 years old for people with a genetic diagnosis of FAP or family members at risk who have not had genetic testing.


How Is FAP Inherited?

FAP (familial adenomatous polyposis) is an inherited autosomal dominant condition. The gene mutation is usually inherited from a parent, but 30% of FAP patients develop the mutation during pregnancy and do not have a parent with FAP. Those who inherit the gene mutation develop adenomatous polyps and precancerous growths in the colon and rectum lining.

Last reviewed at:
25 Jan 2023  -  5 min read




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