Familial ossifying fibroma

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ORPHA:435329OMIM:137575D16.4
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Overview

Familial ossifying fibroma (also called familial juvenile ossifying fibroma or hereditary ossifying fibroma) is a rare inherited condition that causes abnormal growths to form in the bones of the face and jaw. These growths are made up of a mix of fibrous (scar-like) tissue and bone-like material. Unlike normal bone, these lesions do not form properly and can expand over time, distorting the shape of the face and jaw. The condition is called 'familial' because it tends to run in families, meaning it is passed down through generations. The most commonly affected areas are the upper and lower jaw bones, the bones around the eye sockets, and the skull. Growths can appear in childhood or early adulthood and may grow slowly over time. Some people have only mild changes, while others develop larger lesions that cause noticeable facial changes, problems with teeth alignment, vision issues, or difficulty breathing through the nose. Treatment usually involves surgery to remove or reduce the growths. However, because the lesions can come back after surgery, ongoing monitoring is very important. There is no medication that stops the growths from forming. A team of specialists including oral surgeons, maxillofacial surgeons, and geneticists typically work together to manage this condition.

Also known as:

Key symptoms:

Swelling or lumps in the jaw or faceFacial asymmetry or distortion of facial shapeTeeth that are misaligned or displacedLoose or missing teethDifficulty chewing or bitingBulging or displacement of the eyeVision changes if growths press on the eye socketNasal blockage or difficulty breathing through the noseHeadaches related to bone changesSlow-growing painless masses in the jaw area

Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Juvenile

Begins in the teen years

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Familial ossifying fibroma.

View clinical trials →

No actively recruiting trials found for Familial ossifying fibroma at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Familial ossifying fibroma community →

No specialists are currently listed for Familial ossifying fibroma.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Familial ossifying fibroma.

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Community

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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.Which gene is likely causing this condition in our family, and should other family members be tested?,How often should my child have imaging to monitor for new or returning growths?,What are the signs that a growth needs urgent surgical attention?,Are there any clinical trials or new treatments being studied for this condition?,What type of surgeon has the most experience treating familial ossifying fibroma?,How likely is it that the growth will come back after surgery, and what can we do to reduce that risk?,Should we see a psychologist or counselor to help with the emotional impact of this diagnosis?

Common questions about Familial ossifying fibroma

What is Familial ossifying fibroma?

Familial ossifying fibroma (also called familial juvenile ossifying fibroma or hereditary ossifying fibroma) is a rare inherited condition that causes abnormal growths to form in the bones of the face and jaw. These growths are made up of a mix of fibrous (scar-like) tissue and bone-like material. Unlike normal bone, these lesions do not form properly and can expand over time, distorting the shape of the face and jaw. The condition is called 'familial' because it tends to run in families, meaning it is passed down through generations. The most commonly affected areas are the upper and lower j

How is Familial ossifying fibroma inherited?

Familial ossifying fibroma follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Familial ossifying fibroma typically begin?

Typical onset of Familial ossifying fibroma is juvenile. Age of onset can vary across affected individuals.