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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.
Maffucci syndrome is very rare. Since it was first described in 1881, fewer than 200 cases have been reported worldwide.
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.
Maffucci syndrome is not inherited. Affected individuals generally have no history of the disorder in their family.
These resources address the diagnosis or management of Maffucci syndrome and may include treatment providers.
You might also find information on the diagnosis or management of Maffucci syndrome in Educational resources and Patient support.
General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).
To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
You may find the following resources about Maffucci syndrome helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
Ask the Genetic and Rare Diseases Information Center (https://rarediseases.info.nih.gov/gard).
benign ; cancer ; cartilage ; cavernous ; cell ; congenital ; ectoderm ; embryo ; embryonic ; hemangioma ; inherited ; liver cancer ; lymph ; mesoderm ; ovarian ; short stature ; stature ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.