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Disease Profile

Gardner syndrome

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.


US Estimated

Europe Estimated

Age of onset






Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

Gardner's syndrome; Polyposis coli and multiple hard and soft tissue tumors; Intestinal polyposis, osteomas, sebaceous cysts


Congenital and Genetic Diseases; Digestive Diseases; Eye diseases;


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]


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)

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.

Medical Terms Other Names
Learn More:
80%-99% of people have these symptoms
Adenomatous colonic polyposis
Multiple gastric polyps
30%-79% of people have these symptoms
Colon cancer
Congenital hypertrophy of retinal pigment epithelium
Duodenal polyposis
Fatty lump
Noncancerous fatty lump

[ more ]

Thyroid nodule
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 ]

Adrenocortical adenoma
Carious teeth
Dental cavities
Tooth cavities
Tooth decay

[ more ]

Desmoid tumors
Epidermoid cyst
Skin cyst
Fibroadenoma of the breast
Increased number of teeth
Supplemental teeth
Extra teeth
Increased tooth count

[ more ]

Multiple unerupted teeth
Multiple non-erupting teeth
Papillary thyroid carcinoma
Unerupted tooth
Failure of eruption of tooth
1%-4% of people have these symptoms
Adrenocortical carcinoma
Ampulla of Vater carcinoma
Brain neoplasm
Breast carcinoma
Breast cancer
Duodenal adenocarcinoma
Esophageal carcinoma
Gastrointestinal carcinoma
Intellectual disability, moderate
IQ between 34 and 49
Neoplasm of the pancreas
Cancer of the pancreas
Pancreatic tumor

[ more ]

Prostate cancer
Small intestine carcinoid
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
Hyperpigmentation of the skin
Patchy darkened skin
Multiple lipomas
Multiple fatty lumps
Variable expressivity


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]


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.

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]

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, antiestrogen 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]


    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

        Learn more

        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.
        • MedlinePlus Genetics 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.


            1. Hemant Singhal, MD, MBBS, FRCSEd, FRCS(C). Gardner syndrome. Medscape Reference. June 2014; https://emedicine.medscape.com/article/190486-overview.
            2. Randall W Burt, MD. Gardner syndrome. UpToDate. January 2015; https://www.uptodate.com/contents/gardner-syndrome.
            3. Jasperson KW, Patel SG, Ahnen DJ. APC-Associated Polyposis Conditions. GeneReviews. Updated Feb 2, 2017; https://www.ncbi.nlm.nih.gov/books/NBK1345/.
            4. APC. Genetics Home Reference. March 2013; https://ghr.nlm.nih.gov/gene/APC.
            5. Gardner syndrome. DermNet NZ. December 2014; https://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/.

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