Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop on the bones. These growths most commonly occur in the limb bones, especially in the hands and feet; however, they may also occur in the skull, ribs, and vertebrae. Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures. They develop near the ends of bones, where growth occurs, and enchondromas stop forming after affected individuals stop growing. As a result of the bone deformities associated with Maffucci syndrome, people with this disorder generally have short stature and underdeveloped muscles.
Maffucci syndrome is distinguished from similar disorders involving enchondromas by the presence of red or purplish growths in the skin consisting of tangles of abnormal blood vessels (hemangiomas). Affected individuals occasionally also have lymphangiomas, which are masses made up of the thin tubes that carry lymph fluid (lymphatic vessels). These growths may appear anywhere on the body.
The abnormal growths associated with Maffucci syndrome may become cancerous (malignant). In particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the skull. They also have an increased risk of other cancers, such as ovarian or liver cancer.
Maffucci syndrome is believed to be present from birth (congenital) in affected individuals. The signs and symptoms of the disorder may be detectable at birth, although they generally do not become apparent until around age five. People with this disorder usually have a normal lifespan, and intelligence is unaffected. The extent of their physical impairment depends on their individual skeletal deformities, but in most cases they have no major limitations in their activities.
How common is Maffucci syndrome?
Maffucci syndrome is very rare. Since it was first described in 1881, fewer than 200 cases have been reported worldwide.
What genes are related to Maffucci syndrome?
The cause of Maffucci syndrome is unknown. No specific genes related to this disorder have been identified. Researchers suggest that the condition may be associated with abnormalities occurring before birth in the development of two embryonic cell layers called the ectoderm and the mesoderm. In the early embryo, these cell layers form the basis for many of the body's organs and tissues. It is unknown how abnormal development of the ectoderm and mesoderm leads to the growth of enchondromas and the other features of Maffucci syndrome.
How do people inherit Maffucci syndrome?
Maffucci syndrome is not inherited. Affected individuals generally have no history of the disorder in their family.
Where can I find information about diagnosis, management, or treatment of Maffucci syndrome?
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