Metachondromatosis: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Metachondromatosis?
A primary care doctor, such as a family doctor or pediatrician, is usually the first doctor a person sees. They can examine the lump, order X-rays, and watch the growths over time. If surgery or a closer look is needed, they will refer the patient to an orthopedic surgeon or a medical geneticist.
What it is
Metachondromatosis is a rare bone condition a person is born with because of a gene change. It causes enchondromas, lumps of cartilage that form inside bones, and osteochondromas, bony bumps that grow out from the bone near the growth plates. The growths are not cancer, and most people with this condition live normal lives.
Symptoms
Many people have few or no problems. When symptoms happen, they usually involve the hands and feet, where painless bumps may appear. Sometimes a growth presses on a nerve or tendon, causing pain, weakness, or trouble moving a finger or toe. Some growths even shrink or disappear over time, which is unusual for this kind of bone lump.
Causes and who gets it
Metachondromatosis is caused by a mutation in a gene named PTPN11. A parent with the condition has a one in two chance of passing it to each child, though some cases appear for the first time in a child with unaffected parents. The condition is rare, and men and women seem to be affected equally.
How doctors diagnose it
Doctors often find metachondromatosis when an X-ray shows growths on the hands or feet. The pattern of the growths helps tell this condition apart from similar bone conditions. Genetic testing can confirm the diagnosis by finding the change in the PTPN11 gene.
Treatment
Growths that are painless and do not limit movement often need no treatment, just regular checkups. If a growth causes pain, presses on a nerve, or limits how a joint works, surgery to remove it can help, though some growths come back. There is no medicine that removes the growths; care focuses on keeping hands and feet working well.
When to see a doctor
Anyone who notices a lump on a finger, toe, hand, or foot should mention it to a doctor, especially if it grows or causes pain. Numbness, tingling, or weakness in a hand or foot also deserves a visit. Seeing a doctor early can help catch problems before they limit movement.
How a direct primary care or concierge doctor fits in
A direct primary care doctor or a concierge doctor can handle much of this care directly. Direct primary care means the patient pays a flat monthly fee instead of using insurance for visits, while concierge medicine usually costs more and often works alongside insurance. These doctors can order X-rays, follow the growths with regular exams, and refer to a specialist when needed.
Common questions
Are the growths in metachondromatosis cancerous?
No. The growths are benign, meaning they are not cancer and do not spread. Doctors still watch them to make sure they are not pressing on nerves or limiting movement.
Can the bone growths go away on their own?
Some do. Unlike many other bone growths, some enchondromas and osteochondromas in metachondromatosis shrink or disappear over time, especially after a person stops growing.
Will my children inherit metachondromatosis?
It is possible. Each child of a parent with the condition has a one in two chance of inheriting the changed gene. A genetic counselor can help families understand the chances.
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.
