Gardner Syndrome

What is Gardner syndrome?

Gardner syndrome (Gardner’s syndrome) is a rare inherited disorder. People with Gardner syndrome have unusual growths throughout their bodies, including hundreds of colon polyps that may become colon cancer. Without treatment, nearly everyone with Gardner syndrome develops colon cancer. They may also have noncancerous tumors that may appear in their bones, intestines, skin and other soft tissues. They’re also at risk for several other conditions, including other cancers.

How common is this condition?

Gardner syndrome is rare. It affects 1 in 1 million people in the U.S.

Who gets Gardner syndrome?

Gardner syndrome is an inherited disorder. Most people with Gardner syndrome have at least one biological parent who also has the condition.

What are Gardner syndrome symptoms?

Gardner syndrome symptoms change over time. People with this condition may develop symptoms as children, including:

• Noncancerous tumors in bones or soft tissues.
• Dental issues, such as having extra teeth.

Multiple colon polyps are a common Gardner syndrome symptom. Colon polyp signs may not develop until people are teenagers and the condition is very advanced.

What are other conditions linked to Gardner syndrome?

People with Gardner syndrome have an increased risk of developing the following conditions:

• Extra teeth.
• Osteomas.
• Desmoid tumors.
• Lipomas.
• Fibromas.
• Adenomas.
• Epithelial cysts (cysts under your skin).
• CHRPE (congenital hypertrophy of retinal pigment epithelium), which affects your retinas.
• Stomach cancer.
• Liver cancer.
• Colon cancer.

What causes Gardner syndrome?

Experts know Gardner syndrome is an inherited disorder that happens when people inherit an abnormal APC gene. This gene is a tumor suppressor gene that regulates cell growth and prevents cells from dividing and multiplying too quickly. Most people with Gardner syndrome have at least one biological parent who also has the condition.

How is Gardner syndrome diagnosed?

Gardner syndrome causes many different symptoms. Healthcare providers may do the following tests to diagnose Gardner syndrome:

• Genetic tests for mutations in your APC gene. Healthcare providers may recommend genetic testing for Gardner syndrome if you have a close family member with the condition.
• Sigmoidoscopy.
• Endoscopy.
• Colonoscopy.

How is Gardner syndrome treated?

That depends on your signs and symptoms. For example, having extra teeth is an early sign of Gardner syndrome. If you have extra teeth, you may need dental procedures to remove extra teeth and realign other teeth.

If you have desmoid tumors, you may receive chemotherapy to shrink them or treatment to keep these noncancerous tumors from growing. If genetic tests show mutated APC genes, providers may recommend specific cancer screening tests.

Most people with Gardner syndrome have colon polyps that may become colon cancer. If that’s your situation, your provider may recommend medication to slow down polyp growth. If you have many colon polyps, your provider may recommend one of the following surgeries:

• Colectomy to remove part of your colon or your entire colon. Healthcare providers may recommend surgery if tests show you have 20 to 30 colon polyps.
• Proctocolectomy to remove your large intestine and most of your rectum.

Can Gardner syndrome be prevented?

Gardner syndrome is an inherited condition you can’t prevent. But certain cancer screening tests and interventions like certain surgeries may reduce your risk of developing colon cancer and other related cancers. If you have Gardner syndrome, ask your healthcare provider about appropriate screening tests.

Can Gardner syndrome be cured?

No, there’s no cure for Gardner syndrome. But there are treatments and other steps to help manage it, including catching cancer early on when it’s easier to treat.

Surgery to remove your large intestine and most of your rectum is the only treatment to keep colon polyps from developing and becoming colon cancer.

Can you live a full life with Gardner syndrome?

Yes, you can, but surgery to treat Gardner syndrome may change your lifestyle. Colectomies change how food travels through your gastrointestinal (GI) tract. Some versions of colectomy may affect the way you go to the bathroom. If you have a proctocolectomy, you’ll have a new pathway for your poop to come out.

What is the life expectancy of Gardner syndrome?

That depends. Gardner syndrome causes many different medical issues, some more serious than others. Left untreated, Gardner syndrome causes colon cancer that may be life-limiting. But surgery to remove colon polyps may eliminate the risk of colon cancer. For example, studies show 100% of people who had proctocolectomieswere alive five years after diagnosis.

How do I take care of myself?

If you’re living with Gardner syndrome, you’re living with the knowledge you’re likely to develop colon cancer and other cancers while you’re still young. That means living with uncertainty. Regular cancer screening tests and treatments help reduce your risk of developing cancer. They also help to catch cancers at early stages when they’re easier to treat.

Living with Gardner syndrome isn’t easy. You may need regular cancer screenings. You may need treatment that will change your lifestyle. If you’re concerned about the ways Gardner syndrome may change your life, ask your healthcare provider about support programs.

When should I contact my healthcare provider?

Contact your provider if you notice changes in your body that may be new signs or symptoms of Gardner syndrome, such as a new lump or changes in how you go to the bathroom, like blood in your poop.

What questions should I ask my healthcare provider?

Some questions to consider include:

• What treatments are available for my current symptoms?
• Will I need surgery?
• What screening tests should I have and how often should I have them?
• Are there changes in my body I should be monitoring?
• Should my family have genetic testing?