The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Adenomatous colonic polyposis | Very frequent (present in 80%-99% of cases) |
| Duodenal polyposis | Very frequent (present in 80%-99% of cases) |
| Multiple gastric polyps | Very frequent (present in 80%-99% of cases) |
| Colon cancer | Frequent (present in 30%-79% of cases) |
| Carious teeth | Occasional (present in 5%-29% of cases) |
| Congenital hypertrophy of retinal pigment epithelium | Occasional (present in 5%-29% of cases) |
| Delayed eruption of teeth | Occasional (present in 5%-29% of cases) |
| Fibroadenoma of the breast | Occasional (present in 5%-29% of cases) |
| Fibroma | Occasional (present in 5%-29% of cases) |
| Increased number of teeth | Occasional (present in 5%-29% of cases) |
| Irregular hyperpigmentation | Occasional (present in 5%-29% of cases) |
| Multiple lipomas | Occasional (present in 5%-29% of cases) |
| Neoplasm of the central nervous system | Occasional (present in 5%-29% of cases) |
| Odontoma | Occasional (present in 5%-29% of cases) |
| Osteoma | Occasional (present in 5%-29% of cases) |
| Unerupted tooth | Occasional (present in 5%-29% of cases) |
| Adrenocortical adenoma | Very rare (present in 1%-4% of cases) |
| Desmoid tumors | Very rare (present in 1%-4% of cases) |
| Duodenal adenocarcinoma | Very rare (present in 1%-4% of cases) |
| Hepatoblastoma | Very rare (present in 1%-4% of cases) |
| Medulloblastoma | Very rare (present in 1%-4% of cases) |
| Papillary thyroid carcinoma | Very rare (present in 1%-4% of cases) |
| Adrenocortical carcinoma | - |
| Astrocytoma | - |
| - | |
| Hyperpigmentation of the skin | - |
| Keloids | - |
| Small intestine carcinoid | - |
| - |
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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.
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
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. Submit a new question
Have studies shown any connection between familial adenomatous polyposis (FAP) and pancreatitis? See answer
I have FAP. Last year, I had surgery during which a pouch was formed. How often should I have the pouch checked for polyp growth? How often should the stomach and duodenum be checked? I would like to know what the follow-up should be. See answer
The father of my children lost his life after a short battle with colon cancer. Several members of his family had various other types of cancer. I would like to help my children prevent the development of cancer. What are the symptoms of familial adenomatous polyposis (FAP)? What steps can we take to be better prepared for this disease? Who can help us with this endeavor? See answer
I have familial adenomatous polyposis (FAP). Recently, my physicians have identified polyps in the upper portion of my intestine, my gall bladder, and my stomach. Are these all the same type of polyps? See answer
I have been diagnosed with familial adenomatous polyposis (FAP), and my 9-year-old daughter is now having the same signs and symptoms as me. I know you can not give out medical advice, but I'm stuck and need some help for my daughter. How do I find a specialist for children with FAP? At what age do children begin having genetic testing for FAP? See answer
