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.
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
X-linked 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.
X-linked 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.
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;
- Dental abnormalities
- Fundic gland or adenomatous polyps of the stomach
- Adenomatous polyps of the small intestines
- Osteomas (benign bone growths)
Congenitalhypertrophy 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 tumorof 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||
|80%-99% of people have these symptoms|
|Adenomatous colonic polyposis||0005227|
|Multiple gastric polyps||0004394|
|30%-79% of people have these symptoms|
|Congenital hypertrophy of retinal pigment epithelium||0007649|
Noncancerous fatty lump
[ more ]
|5%-29% of people have these symptoms|
|Abnormality of skin pigmentation||
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary skin changes
[ more ]
[ more ]
|Fibroadenoma of the breast||0010619|
|Increased number of teeth||
Increased tooth count
[ more ]
|Multiple unerupted teeth||
Multiple non-erupting teeth
|Papillary thyroid carcinoma||0002895|
Failure of eruption of tooth
|1%-4% of people have these symptoms|
|Ampulla of Vater carcinoma||0031524|
IQ between 34 and 49
|Neoplasm of the pancreas||
Cancer of the pancreas
[ more ]
|Small intestine carcinoid||0006722|
|Percent of people who have these symptoms is not available through HPO|
|Hyperpigmentation of the skin||
Patchy darkened skin
Multiple fatty lumps
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.
- At least 100 colorectal polyps OR fewer than 100 polyps and a family member with Familial Adenomatous Polyposis or Gardner syndrome
- Osteomas (bony growths)
tissue tumorssuch as epidermoid cysts, fibromas, and desmoid tumors
These symptoms are usually identified using a combination of physical examination,
- 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.
Sigmoidoscopyor colonoscopyevery 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.
Treatment for desmoid tumors varies depending on the size and location of the tumor, but may include watchful waiting, surgery, NSAIDS, anti
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.
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.
- 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.
- 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.
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.
- Hemant Singhal, MD, MBBS, FRCSEd, FRCS(C). Gardner syndrome. Medscape Reference. June 2014; https://emedicine.medscape.com/article/190486-overview.
- Randall W Burt, MD. Gardner syndrome. UpToDate. January 2015; https://www.uptodate.com/contents/gardner-syndrome.
- Jasperson KW, Patel SG, Ahnen DJ. APC-Associated Polyposis Conditions. GeneReviews. Updated Feb 2, 2017; https://www.ncbi.nlm.nih.gov/books/NBK1345/.
- APC. Genetics Home Reference. March 2013; https://ghr.nlm.nih.gov/gene/APC.
- Gardner syndrome. DermNet NZ. December 2014; https://www.dermnetnz.org/systemic/gardner.html.
- 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.
- Burt RW and Jasperson K. Familial Adenomatous Polyposis. National Organization for Rare Disorders. January 2014; https://rarediseases.org/rare-diseases/familial-adenomatous-polyposis/.