Overview
AXIN2-related polyposis is a rare inherited condition caused by changes (mutations) in the AXIN2 gene. This gene normally helps control cell growth in the body, particularly in the lining of the colon and in developing teeth. When the AXIN2 gene does not work properly, affected individuals develop multiple polyps (small growths) in the colon and rectum. These polyps are called adenomatous polyps, and over time they carry an increased risk of turning into colorectal cancer if not monitored and managed. In addition to colon polyps, many people with this condition also have problems with tooth development, including missing permanent teeth (a condition called oligodontia or hypodontia). Some individuals may also have sparse hair or other mild ectodermal features. The condition is sometimes referred to as oligodontia-colorectal cancer syndrome or familial adenomatous polyposis type 4. The number of polyps can vary widely between affected individuals, even within the same family. Some people develop dozens of polyps while others may have fewer. Because of the cancer risk, regular colonoscopy screening is essential. Treatment typically involves surveillance with colonoscopy, removal of polyps when found, and in some cases surgery to remove part or all of the colon if polyps become too numerous to manage. Dental treatment is also important for those with missing teeth, and may include dentures, bridges, or dental implants. Early diagnosis through genetic testing allows families to begin screening at the appropriate age and reduce the risk of cancer.
Also known as:
Key symptoms:
Multiple polyps in the colon and rectumMissing permanent teeth (oligodontia)Increased risk of colorectal cancerSparse or thin hairAbnormal tooth shape or sizeDelayed eruption of teethRectal bleeding from polypsChanges in bowel habitsAbdominal discomfort or crampingMild ectodermal abnormalities such as thin eyebrows
Clinical phenotype terms (7)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for AXIN2-related polyposis.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for AXIN2-related polyposis at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for AXIN2-related polyposis.
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 AXIN2-related polyposis.
Community
No community posts yet. Be the first to share your experience with AXIN2-related polyposis.
Start the conversation →Latest news about AXIN2-related polyposis
No recent news articles for AXIN2-related polyposis.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 colonoscopy screening begin for me or my child?,How often should colonoscopies be repeated?,What are the signs that surgery to remove the colon might be needed?,Should other family members be tested for the AXIN2 gene change?,What dental treatment options are available for missing teeth?,Are there any clinical trials or new treatments being studied for this condition?,What lifestyle changes can help reduce my colorectal cancer risk?
Common questions about AXIN2-related polyposis
What is AXIN2-related polyposis?
AXIN2-related polyposis is a rare inherited condition caused by changes (mutations) in the AXIN2 gene. This gene normally helps control cell growth in the body, particularly in the lining of the colon and in developing teeth. When the AXIN2 gene does not work properly, affected individuals develop multiple polyps (small growths) in the colon and rectum. These polyps are called adenomatous polyps, and over time they carry an increased risk of turning into colorectal cancer if not monitored and managed. In addition to colon polyps, many people with this condition also have problems with tooth de
How is AXIN2-related polyposis inherited?
AXIN2-related polyposis follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.