Overview
Oligodontia-cancer predisposition syndrome is a very rare genetic condition that combines two main problems: missing teeth (oligodontia) and an increased risk of developing certain types of cancer. Oligodontia means that a person is born missing six or more permanent teeth, which can affect chewing, speech, and facial appearance. The cancer predisposition part of this syndrome means that affected individuals have a higher-than-normal chance of developing cancers, particularly colorectal cancer (cancer of the colon or rectum), but other cancer types may also occur. This syndrome is caused by mutations in the AXIN2 gene, which plays an important role in a signaling pathway called the Wnt pathway. This pathway helps control how cells grow, divide, and develop. When the AXIN2 gene is not working properly, it can lead to problems with tooth development before birth and can also allow cells to grow in an uncontrolled way, which may lead to cancer over time. Because this condition involves both dental and cancer-related concerns, treatment requires a team approach. Dental care typically includes prosthetics such as dentures, dental implants, or bridges to replace missing teeth and improve function and appearance. Cancer surveillance is critically important and usually involves regular colonoscopies and other screening tests starting at a younger age than is typical for the general population. Early detection of precancerous growths (polyps) or early-stage cancer can significantly improve outcomes. Genetic counseling is also recommended for affected families to understand the risks and plan appropriate monitoring.
Key symptoms:
Missing six or more permanent teeth (oligodontia)Abnormal tooth shape or sizeDelayed eruption of teethSparse or thin hair in some casesColorectal polyps (growths in the colon or rectum)Increased risk of colorectal cancerPossible increased risk of other cancersDifficulty chewing foodSpeech difficulties due to missing teethChanges in facial appearance due to missing teeth
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Oligodontia-cancer predisposition syndrome.
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Specialists
View all specialists →No specialists are currently listed for Oligodontia-cancer predisposition syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Oligodontia-cancer predisposition syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.At what age should my child (or I) start having colonoscopies, and how often should they be repeated?,What is the best dental treatment plan for the missing teeth, and when should it begin?,Are there other types of cancer I should be screened for besides colorectal cancer?,Should other family members be tested for the AXIN2 gene mutation?,What signs or symptoms should prompt me to seek urgent medical attention?,Are there clinical trials or research studies for this condition that we could participate in?,Can you help coordinate care between my dental team and cancer screening team?
Common questions about Oligodontia-cancer predisposition syndrome
What is Oligodontia-cancer predisposition syndrome?
Oligodontia-cancer predisposition syndrome is a very rare genetic condition that combines two main problems: missing teeth (oligodontia) and an increased risk of developing certain types of cancer. Oligodontia means that a person is born missing six or more permanent teeth, which can affect chewing, speech, and facial appearance. The cancer predisposition part of this syndrome means that affected individuals have a higher-than-normal chance of developing cancers, particularly colorectal cancer (cancer of the colon or rectum), but other cancer types may also occur. This syndrome is caused by m
How is Oligodontia-cancer predisposition syndrome inherited?
Oligodontia-cancer predisposition syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Oligodontia-cancer predisposition syndrome typically begin?
Typical onset of Oligodontia-cancer predisposition syndrome is childhood. Age of onset can vary across affected individuals.