Maffucci syndrome is a rare genetic disorder. It causes benign tumors in cartilage (enchondromas), usually in your hands. The condition can cause bone pain, skeletal abnormalities and fractures. It also involves abnormal tangles of blood vessels on your skin (hemangiomas). People with the syndrome should receive regular screenings for cancer.
Maffucci syndrome is a rare disorder that affects your bones and skin. The condition causes:
Cartilage is a firm, flexible type of connective tissue throughout your body that coats the bones in your joints. In a person with Maffucci syndrome, benign tumors made up of cartilage grow in the bones. There are hundreds or thousands of enchondromas, which together can cause severe deformities, short limbs and bone fractures. The overgrowths usually occur in your hands and feet, but also may affect your:
The abnormal growths are benign (noncancerous), but may become malignant (cancerous). People with Maffucci syndrome are more likely to develop chondrosarcoma (up to 50% of people with Maffucci syndrome develop chondrosarcoma), a type of bone cancer that starts in cartilage cells. They have a higher chance of developing other cancers as well.
Maffucci syndrome is very rare, with several hundred cases reported in the medical literature.
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The signs and symptoms of Maffucci syndrome can vary, ranging from mild to severe. They may be present at birth, but they usually develop during childhood.
The main symptoms of the disorder come from enchondromas, which can lead to:
Symptoms related to hemangiomas may include:
Maffucci syndrome is a genetic disorder. It’s caused by a random change (mutation) in one of two genes: IDH1 (more commonly) or IDH2 (less commonly). Researchers think the change occurs before birth. The IDH genes are responsible for making enzymes important to many cell processes in your body. But scientists don’t understand the link between those enzymes and Maffucci syndrome.
The condition isn’t hereditary, so it can’t be inherited (passed down in a family).
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A healthcare provider can diagnose Maffucci syndrome with:
If you have Maffucci syndrome, your healthcare team might include several specialists, such as:
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There’s no cure for Maffucci syndrome. The goals of treatment are to:
Your healthcare team will order regular medical imaging to monitor your bones. If enchondromas or skeletal issues affect function, treatments may include:
If hemangiomas are bothersome, a healthcare provider may recommend sclerotherapy. The procedure uses an injectable solution to shrink the lesions. Hemangiomas also can be removed surgically.
Scientists don’t fully understand the genetic mutation involved in Maffucci syndrome, so there aren’t any strategies to prevent it.
Maffucci syndrome is a chronic, lifelong condition. Some people with Maffucci syndrome have minor physical issues and very few limitations on activities. But others have serious cases with more severe bone problems and physical limitations.
The condition doesn’t affect intelligence. It can potentially shorten your lifespan if you develop cancer.
People with Maffucci syndrome have a higher chance of developing cancer. You should follow your healthcare team’s recommendations for screening. The earlier you detect cancer, the more effective treatment can be.
Both Ollier syndrome and Maffucci syndrome are types of enchondroma. But Maffucci syndrome also involves hemangiomas.
Less commonly, Maffucci syndrome may also be called:
A note from Cleveland Clinic
Getting a diagnosis of Maffucci syndrome can be difficult whether it’s for you or your child. You’ll need close monitoring throughout your life for broken bones and bone cancer. Making follow-up appointments with multiple specialists can be frustrating. Still, careful screening for bone issues can potentially save or prolong your life if you develop cancer. Catching and treating cancer early is one of the best ways to improve your prognosis. Your provider can tell you what symptoms you should watch out for.
Last reviewed on 12/20/2022.
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Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy