National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Gardner syndrome


Other Names:
Gardner's syndrome; Polyposis coli and multiple hard and soft tissue tumors; Intestinal polyposis, osteomas, sebaceous cysts
Categories:
This disease is grouped under:
Gardner syndrome is a form of familial adenomatous polyposis (FAP) that is characterized by multiple colorectal polyps and various types of tumors, both benign (noncancerous) and malignant (cancerous). People affected by Gardner syndrome have a high risk of developing colorectal cancer at an early age. They are also at an increased risk of developing other FAP-related cancers, such as those of the small bowel, stomach, pancreas, thyroid, central nervous system, liver, bile ducts, and/or adrenal gland. Other signs and symptoms of Gardner syndrome include dental abnormalities; osteomas (benign bone growths); various skin abnormalities such as epidermoid cysts, fibromas (a benign tumor of the connective tissue), and lipomas; and desmoid tumors. It is caused by changes (mutations) in the APC gene and inherited in an autosomal dominant manner. Although there is no cure for Gardner syndrome, management options are available to reduce the risk of cancer. These may include high risk screening, prophylactic surgeries and/or certain types of medications.[1][2][3]
Last updated: 1/14/2015
The signs and symptoms of Gardner syndrome vary from person to person. It is a form of familial adenomatous polyposis (FAP), which is characterized primarily by hundreds to thousands of noncancerous (benign) polyps in the colon that begin to appear at an average age of 16 years. Unless the colon is removed, these polyps will become malignant (cancerous), leading to early-onset colorectal cancer at an average age of 39 years.[3]

Other features of Gardner syndrome may include:[3][1][2]
  • Dental abnormalities
  • Fundic gland or adenomatous polyps of the stomach
  • Adenomatous polyps of the small intestines
  • Osteomas (benign bone growths)
  • Congenital hypertrophy of the retinal pigment epithelium (a flat, pigmented spot within the outer layer of the retina)
  • Benign skin abnormalities such as epidermoid cysts, fibromas (a benign tumor of the connective tissue), and lipomas
  • Adrenal masses
  • Desmoid tumors
  • Other types of cancer (small bowel, stomach, pancreas, thyroid, central nervous system, liver, bile ducts, and/or adrenal gland)
Last updated: 1/14/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 40 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Adenomatous colonic polyposis 0005227
Multiple gastric polyps 0004394
30%-79% of people have these symptoms
Colon cancer 0003003
Congenital hypertrophy of retinal pigment epithelium 0007649
Duodenal polyposis 0004783
Lipoma
Fatty lump
Noncancerous fatty lump
[ more ] 		0012032
Thyroid nodule 0025388
5%-29% of people have these symptoms
Abnormality of skin pigmentation
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ] 		0001000
Adrenocortical adenoma 0008256
Carious teeth
Dental cavities
Tooth cavities
Tooth decay
[ more ] 		0000670
Desmoid tumors 0100245
Epidermoid cyst
Skin cyst
0200040
Fibroadenoma of the breast 0010619
Increased number of teeth
Increased tooth count
Supplemental teeth
Extra teeth
[ more ] 		0011069
Keloids 0010562
Multiple unerupted teeth
Multiple non-erupting teeth
0006283
Osteoma 0100246
Papillary thyroid carcinoma 0002895
Unerupted tooth
Failure of eruption of tooth
0000706
1%-4% of people have these symptoms
Adrenocortical carcinoma 0006744
Ampulla of Vater carcinoma 0031524
Astrocytoma 0009592
Brain neoplasm 0030692
Breast carcinoma
Breast cancer
0003002
Duodenal adenocarcinoma 0006771
Esophageal carcinoma 0011459
Gastrointestinal carcinoma 0002672
Hepatoblastoma 0002884
Intellectual disability, moderate
IQ between 34 and 49
0002342
Medulloblastoma 0002885
Neoplasm of the pancreas
Cancer of the pancreas
Pancreatic tumor
[ more ] 		0002894
Odontoma 0011068
Pilomatrixoma 0030434
Prostate cancer 0012125
Small intestine carcinoid 0006722
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Carcinoma 0030731
Hyperpigmentation of the skin
Patchy darkened skin
0000953
Multiple lipomas
Multiple fatty lumps
0001012
Variable expressivity 0003828
Showing of 40 |
Last updated: 7/1/2020
Gardner syndrome is caused by changes (mutations) in the APC gene, which is called a "tumor suppressor." Tumor suppressor genes encode proteins that are part of the system that controls cell growth and division. These proteins ensure that cells do not grow and divide too quickly or in an abnormal manner. Mutations in the APC gene lead to uncontrolled cell growth which results in the development of the polyps, tumors and cancers that can be associated with Gardner syndrome. The symptoms found in each person and the severity of the condition depend on which part of the APC gene is mutated.[1][4]
Last updated: 1/14/2015
Gardner syndrome is inherited in an autosomal dominant manner.[3] This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with Gardner syndrome has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
Last updated: 1/14/2015
Genetic testing is available for APC, the gene known to cause Gardner syndrome. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. Because colon screening for those at risk for Gardner syndrome begins as early as age ten years, genetic testing is generally offered to children by this age.[3]

The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated: 1/14/2015

Gardner syndrome is diagnosed based on the following features:[3]
These symptoms are usually identified using a combination of physical examination, colonoscopy, and X-rays of the long bones and/or jaw bone. The presence of other signs and symptoms such as stomach or small intestinal polyps; congenital hypertrophy of the retinal pigment epithelium (a flat, pigmented spot within the outer layer of the retina); and/or associated cancers, supports the diagnosis.[3][5]

A diagnosis of Gardner syndrome can be confirmed by the identification of a disease-causing change (mutation) in the APC gene.[3]
Last updated: 1/14/2015

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Although there is no cure for Gardner syndrome, treatment and management options are available to reduce the risk of cancer. For example, affected people typically undergo regular screening for the various polyps and tumors associated with Gardner syndrome to permit early diagnosis and treatment. This screening regimen may include:[6][3]
  • Sigmoidoscopy or colonoscopy every one to two years, beginning at age ten to 12 years. Once polyps are detected, colonoscopy is recommended annually until colectomy (removal of colon).
  • EGD (esophagogastroduodenoscopy) beginning by age 25 and repeated every one to three years.
  • Annual physical examination, including a thorough thyroid evaluation beginning in the late teenage years.
  • Screening for desmoid tumors and hepatoblastoma (a specific type of liver cancer that is diagnosed in young children) may also be recommended in some people.

A colectomy is usually recommended when more than 20 or 30 polyps and/or multiple advanced polyps are identified. Sulindac, a nonsteroidal anti-inflammatory drug (NSAIDs), is sometimes prescribed in people with Gardner syndrome who have had a colectomy to treat polyps in the remaining rectum.[3][7]

Treatment for desmoid tumors varies depending on the size and location of the tumor, but may include watchful waiting, surgery, NSAIDS, anti-estrogen medications, chemotherapy and/or radiation therapy.[3][7] Osteomas (bony growths) may be removed for cosmetic reasons.[3] Treatment of epidermoid cysts in Gardner syndrome is similar to that used for ordinary cysts and involves excision.[5]
Last updated: 1/14/2015
The long-term outlook (prognosis) for people with Gardner syndrome depends on the signs and symptoms present in each person and the age of diagnosis. By age 35 years, 95% of affected people have polyps. Once they appear, the polyps rapidly increase in number. Without colectomy, hundreds to thousands of colon polyps are typically observed and colon cancer is inevitable. The average age of colon cancer diagnosis in untreated individuals is 39 years (range 34-43 years).[3] However, with early diagnosis and high-risk management, the prognosis is good. In fact, the 5-year survival rate for patients who undergo protocolectomy is nearly 100%. If alternative surgeries are performed that remove the colon but not the rectum, the recurrence rate is 30% in 20 years and 45% in 30 years; continued surveillance of the remaining rectum is, therefore, imperative.[1]

The skin abnormalities (epidermoid cysts, fibromas, and lipomas) associated with Gardner syndrome are mainly of cosmetic concern, as they do not appear to become malignant (cancerous). Osteomas (bony growths) do not usually cause medical problems and do not become malignant. Although desmoid tumors are typically benign (noncancerous), they have a tendency to invade surrounding tissues and/or compress nearby organs and can be very difficult to remove.[3]
Last updated: 1/15/2015

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Gardner syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Cancer.Net, oncologist-approved cancer information from the American Society of Clinical Oncology, has information about Gardner syndrome. Click on the link to view the information.
  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • Genetics Home Reference (GHR) contains information on Gardner syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
    Gardner syndrome
    Dermatologic Manifestations of Gardner Syndrome
    Pediatric Gardner Syndrome
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Gardner syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Hemant Singhal, MD, MBBS, FRCSEd, FRCS(C). Gardner syndrome. Medscape Reference. June 2014; http://emedicine.medscape.com/article/190486-overview.
  2. Randall W Burt, MD. Gardner syndrome. UpToDate. January 2015; http://www.uptodate.com/contents/gardner-syndrome.
  3. Kory W Jasperson, MS and Randall W Burt, MD. APC-Associated Polyposis Conditions. GeneReviews. March 27, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1345/.
  4. APC. Genetics Home Reference. March 2013; http://ghr.nlm.nih.gov/gene/APC.
  5. Gardner syndrome. DermNet NZ. December 2014; http://www.dermnetnz.org/systemic/gardner.html.
  6. Genetic Familial High-Risk Assessment: Colorectal Panel Members. Genetic Familial High-Risk Assessment: Colorectal. NCCN Clinical Practice Guidelines in Oncology. February 2014; https://www.nccn.org/about/news/ebulletin/ebulletindetail.aspx?ebulletinid=294.
  7. Burt RW and Jasperson K. Familial Adenomatous Polyposis. National Organization for Rare Disorders. January 2014; https://rarediseases.org/rare-diseases/familial-adenomatous-polyposis/.