Gardner Syndrome: Symptoms, Causes, Diagnosis & Treatment

Written by Medicover Team and Medically Reviewed by Dr Raosaheb Rathod , Gastroenterologists Medical

Causes
Find a Doctor
Diagnosis
Treatment
FAQs
Book an Appointment

1. Causes 2. Find a Doctor 3. Diagnosis 4. Treatment 5. FAQs

Gardner syndrome is a rare inherited genetic disorder and a subtype of familial adenomatous polyposis (FAP), characterized by multiple colon polyps, benign tumors, and an increased risk of colorectal cancer. It may also affect the bones, skin, and teeth. Early diagnosis, regular screening, and timely treatment help prevent cancer and improve long-term health outcomes.

What Are Gardner Syndrome Symptoms?

Gardner syndrome is a condition that causes growths in the body, and knowing the symptoms early can really help you manage it better. This condition is often linked to the development of multiple growths in the colon (large intestine), but it can also show up in other parts of the body.

Common Symptoms of Gardner Syndrome Include:

Multiple colon polyps (small growths in the large intestine)
Blood in the stool or rectal bleeding
Abdominal pain or discomfort
Changes in bowel habits (like diarrhea or constipation)
Unexplained weight loss

Other Possible Signs:

Hard bumps (osteomas) on the jaw or skull
Skin cysts (small, firm lumps under the skin)
Dental problems (extra teeth or impacted teeth)
Growth in the soft tissues of the body

It usually runs in families, so if someone in your family has had it, it's good to watch for these signs of Gardner Syndrome. Many people don't notice anything at first because some symptoms can develop slowly over time. That's why regular check-ups matter if you're at risk.

What Causes Gardner Syndrome?

Gardner syndrome is caused by inherited mutations in the APC gene, which normally helps regulate cell growth. These mutations result in uncontrolled cell growth and the formation of multiple polyps and tumors.

Inherited mutation in the APC gene
Autosomal dominant inheritance pattern
New (spontaneous) APC gene mutations in some individuals without a family history
Family history of familial adenomatous polyposis (FAP) or Gardner syndrome

When to See a Doctor for Gardner Syndrome?

Consult a gastroenterologist medical if you have persistent rectal bleeding, changes in bowel habits, abdominal pain, multiple skin or bone growths, or a family history of Gardner syndrome or familial adenomatous polyposis. Early medical evaluation is essential to detect colorectal polyps before they become cancerous and to manage associated complications effectively.

You should see a doctor if you have:

Persistent rectal bleeding or blood in the stool
Unexplained changes in bowel habits or abdominal pain
Multiple skin cysts, bony growths, or a family history of the condition

Get medical help immediately if:

Severe abdominal pain with vomiting or bowel obstruction
Heavy rectal bleeding or signs of severe anemia
Sudden severe abdominal swelling, fever, or signs of intestinal perforation

These could be signs of a serious complication like Gardner syndrome, which needs urgent care.

Find Gastroenterologists-medical for Gardner Syndrome Treatment Near You

How Is Gardner Syndrome Diagnosed?

Diagnosing Gardner syndrome involves a careful look at both your personal health and family history. Since it's often inherited, doctors will ask about any family members with colon polyps or certain types of cancers.

Your doctor will guide you through a few important steps to make sure you get the right diagnosis:

Medical History: Talking about any symptoms you've noticed, like belly pain, blood in stool, or unusual growths on the skin or bones.
Family History: Checking if close relatives have had colon cancer or multiple polyps.
Colonoscopy: A camera is used to look inside your colon for polyps. This is the main way to find and even remove them.
Genetic Testing: A simple blood test can check for changes in the APC gene, which is linked to Gardner syndrome.
Imaging Tests: X-rays, CT scans, or MRIs may be used to spot growths in other parts of the body, like bones or the abdomen.
Dental Check: Doctors might also look for extra teeth or jaw cysts, which are common with this syndrome.

How Is Gardner Syndrome Treated?

Treating Gardner syndrome depends on the problems you're facing, because it can affect people in different ways. Doctors will look at your symptoms and make a plan that suits you best. The goal is to manage the condition, prevent cancer, and help you stay healthy.

Here's how treatment usually works:

Dental Care

Some people develop extra teeth early on.
Dentists may remove these extra teeth.
Braces or other treatments can help straighten and align the remaining teeth.

Managing Desmoid Tumors

These are noncancerous growths that can still cause problems.
Doctors may use medication or chemotherapy to shrink them.
Sometimes treatment focuses on stopping them from growing bigger.

Cancer Screening and Prevention

Since Gardner syndrome is linked to a higher risk of colon cancer, regular check-ups are important.
Genetic tests can help find APC gene changes that increase cancer risk.
Doctors may recommend routine colonoscopies or other screenings to catch issues early.

Medication for Colon Polyps

Medicines can help slow the growth of colon polyps and lower cancer risk.
Medicines like certain pain relievers (for example, sulindac or celecoxib) can help slow the growth of colon polyps.

Surgery (if needed)

Colectomy: This procedure removes part or all of the colon if you have many polyps (usually 20-30 or more).
Proctocolectomy: This procedure removes the entire large intestine and most of the rectum for more severe cases.

Your healthcare team will explain these options and help you choose what's right for you, ensuring you receive the best care to stay safe and healthy.

Your health is everything - prioritize your well-being today.

Consult Gardner Syndrome Doctors Today

What are the Complications of Gardner Syndrome?

Gardner syndrome can lead to some challenges if not managed carefully, but there are ways to lower the risks. It helps to know what to watch for and how to stay ahead of it.

Possible complications include:

Colon cancer occurs when polyps aren't removed
Growths on bones or skin
Blockages in the intestines
Discomfort after surgery

What Is the Recovery Process After Gardner Syndrome Treatment?

Recovering from treatment for Gardner syndrome depends on the type of care you receive. Most people will need ongoing check-ups to stay healthy and catch any new growths early. It's normal to feel worried, but with the right plan, you can live well.

Here's what recovery usually involves:

Regular doctor visits and screenings
Watching for new polyps in the colon
Following a healthy diet to support digestion
Caring for any surgical sites if surgery was done

Frequently Asked Questions

1. What are the signs and symptoms of Gardner syndrome?

Signs may include multiple colorectal polyps, abdominal pain, rectal bleeding, constipation or diarrhea, dental abnormalities, jaw osteomas, epidermoid cysts, and desmoid tumors. Some people have no symptoms initially.

2. Can you live a full life with Gardner syndrome?

Yes. With early diagnosis, regular colorectal screening, and appropriate treatment, many people with Gardner syndrome can live long, active lives. Without monitoring, the risk of colorectal cancer is very high.

3. What are the diagnostic criteria for Gardner syndrome?

There is no single diagnostic test based only on symptoms. Diagnosis typically involves multiple colorectal adenomatous polyps plus characteristic features such as osteomas or soft-tissue tumors, supported by APC gene testing and family history.

4. What causes Gardner syndrome?

Gardner syndrome is caused by a pathogenic mutation in the APC gene, which affects cell growth and increases the risk of developing numerous polyps and tumors.

5. Is there a cure for Gardner syndrome?

There is no cure for the underlying genetic condition. However, regular screening, polyp removal, preventive colorectal surgery when appropriate, and treatment of associated tumors can significantly reduce complications.

6. Is Gardner syndrome extremely rare?

Gardner syndrome is rare, but it is considered a variant of familial adenomatous polyposis (FAP). FAP itself occurs in approximately 1 in 8,000 to 1 in 18,000 people.