Ollier Disease: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Ollier Disease?
An orthopedic surgeon, a doctor who treats bone and joint problems, usually leads care for Ollier disease. A geneticist, a doctor who studies inherited and gene-related conditions, may help with diagnosis. Children may also work with a physical therapist. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Ollier disease?
Ollier disease is a rare disorder of bone growth. It causes enchondromas, which are noncancerous growths of cartilage inside the bones. Cartilage is firm, bendy tissue. The growths mostly form in the bones of the arms and legs, especially the hands and feet. Another name for the condition is enchondromatosis.
A related disorder, Maffucci syndrome, also has several enchondromas. It is different because it also causes red or purplish growths in the skin made of tangled blood vessels.
Symptoms
Signs may be present at birth, but they usually become clear in early childhood. Problems can include:
- Slow or uneven growth of the arms and legs, often seen between ages one and four.
- A limp, if only one leg is affected.
- Short stature, if both legs are affected.
- Shortened or bowed limbs and deformities of the wrists and ankles.
- The outer layer of the bone becomes thin and more fragile.
Broken bones are common, and they usually heal well. The growths often stop forming once a person finishes growing in early adulthood.
People with Ollier disease usually have a normal lifespan, and intelligence is not affected. Most have no major limits on their activities. The growths can turn cancerous, so regular checkups matter.
Causes and who gets it
Ollier disease is not inherited. The gene changes behind it happen during a person's life, most likely in a cell early in development before birth. Only some cells carry the change, a pattern called mosaicism.
In most people the changes are in the IDH1 or IDH2 gene. Doctors do not fully know how these changes lead to the growths. The disease affects males and females equally, and it affects about 1 in 100,000 people.
How doctors diagnose it
Doctors use x-rays and MRI to look at the bones. A bone biopsy may also be done. This means a small piece of tissue is studied. The growths can become cancerous, so a doctor should check people with Ollier disease on a regular basis.
Treatment
Treatment focuses on symptoms and problems. Surgery to correct deformities of an arm or leg has helped. In severe cases, an artificial joint replacement may be needed. Broken bones usually heal without trouble.
Children may do well with a team approach. This can include physical therapy, which uses exercise to build strength and movement, along with other medical, social, and work-related services.
When to see a doctor
Because enchondromas can become cancerous, people with Ollier disease should be checked regularly by a doctor for cancer changes in the bones and joints. Talk to a doctor if a child has slow or uneven growth of an arm or leg, a limp, or bowed limbs. Also see a doctor right away if a bone growth gets bigger fast or starts to hurt. These can be signs of cancer changes.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Such a doctor can review your symptoms, help you keep up with regular checkups, and coordinate care between specialists.
Common questions
Is Ollier disease inherited?
No, Ollier disease is not inherited. The gene changes that cause it happen during a person's lifetime, and they are found in only some cells. Doctors still do not fully understand how they cause the growths.
Can Ollier disease turn into cancer?
Yes, the enchondromas start out noncancerous but can become cancerous. The main concern is a bone cancer called chondrosarcoma. People with Ollier disease also have a higher risk of other cancers, such as ovarian or liver cancer, so regular checkups are important.
Does Ollier disease shorten life?
No, people with Ollier disease usually have a normal lifespan. Intelligence is not affected. Most people have no major limits on their activities.
How is Ollier disease treated?
Treatment is based on symptoms and problems. Surgery can correct deformities, and joint replacement may be needed in severe cases. A care team that includes physical therapy may help children. Broken bones usually heal without trouble.
Sources
- National Organization for Rare Disorders (NORD) - Ollier Disease
- MedlinePlus Genetics - Ollier disease
- StatPearls - Enchondroma
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
