Maffucci Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Maffucci Syndrome?
An orthopedic surgeon, a doctor who treats bone problems, often helps lead care for Maffucci syndrome. Care usually takes a team of specialists. 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 Maffucci syndrome?
Maffucci syndrome is a disorder that mainly affects the bones and skin. It is extremely rare.
It has two main features:
- Multiple enchondromas, which are noncancerous growths of cartilage inside bones.
- Vascular lesions, which are tangles of abnormal blood vessels.
The signs and symptoms can vary in severity. Some people have a very mild course, and others have serious problems.
Symptoms
The features usually appear in early childhood. Maffucci syndrome is not recognizable at birth.
Enchondromas most often grow in the bones of the hands and feet. They can also grow in the skull, ribs, arms, legs, and spine. They can make bones weak and likely to break. They can also cause severe bone deformities that limit movement.
Vascular lesions usually appear after the enchondromas. They often look like red or purplish growths on the skin, most often on the hands. They can also affect deeper tissues, including organs inside the body. Vascular lesions may get worse over time.
Other signs can include:
- Bone pain.
- Short stature.
- Scoliosis, a spine that curves to the side.
- Difficulty walking.
- One arm or leg that is shorter than the other.
Maffucci syndrome raises the risk of cancer. Enchondromas can turn into chondrosarcoma, a type of bone cancer. The risk is also higher for cancers of the ovaries, pancreas, liver, brain, and spinal cord. The more enchondromas a person has, the higher the risk.
Causes and who gets it
Changes in the IDH1 gene, or rarely the IDH2 gene, cause Maffucci syndrome. These changes generally happen during early development of the embryo.
Maffucci syndrome is not inherited. People with it usually have no family history of it.
It occurs in all ethnic groups. Males and females are affected equally.
How doctors diagnose it
Doctors diagnose Maffucci syndrome with a detailed history, a physical exam, and imaging tests.
If an enchondroma is removed, doctors can study it under a microscope. This confirms it is an enchondroma and shows whether it is cancer.
Doctors also tell it apart from Ollier disease, which has enchondromas but no vascular lesions on the skin.
Treatment
Treatment depends on the signs and symptoms each person has. People with no symptoms need no treatment. A team of specialists works together.
- Enchondromas can be removed with surgery if needed.
- Raised, warty vascular lesions can be injected with a drug that shrinks and hardens them, but surgery is often needed too.
- A hand surgeon can correct hand problems if there is loss of function or repeated fractures.
- An orthopedic surgeon treats uneven leg length, scoliosis, and other bone problems.
People with Maffucci syndrome need regular check-ups. This is because an enchondroma can turn cancerous or a tumor can grow elsewhere.
When to see a doctor
See a doctor regularly if you have Maffucci syndrome. Tell your doctor if you have bone pain, which can be a sign of Maffucci syndrome. Also tell your doctor if you break a bone, because enchondromas can make bones weak.
Ask your doctor about any new tumor or growth, since people with Maffucci syndrome can develop tumors elsewhere in the body.
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. A direct primary care doctor can help coordinate your specialists and keep track of your regular check-ups.
Common questions
Is Maffucci syndrome inherited?
No. The gene changes happen after conception and are not passed down in families.
Does Maffucci syndrome cause cancer?
It raises the risk of cancer. The risk is mainly for chondrosarcoma, a cancer of cartilage.
Is Maffucci syndrome the same as Ollier disease?
No. Ollier disease also involves enchondromas. But it does not have the vascular lesions on the skin that Maffucci syndrome has.
Does Maffucci syndrome shorten life?
It depends on whether cancer develops. If cancer does not develop, people with Maffucci syndrome have an otherwise normal life expectancy.
When do the symptoms start?
They usually start in early childhood.
Sources
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.
