Maffucci syndrome is an extremely rare genetic disorder (a mutation of the IDH1/IDH2 genes), characterized by the formation of numerous enchondromas with venous malformations and hemangiomas on the bones. This disorder affects both males and females, usually appearing by age 5, though 25% of cases are congenital.
The benign cartilage growths associated with Maffucci syndrome tend to appear on the hands and feet, though it’s possible for them to develop elsewhere on the body. They will affect an individual’s appearance and physical development, causing any of the following: short stature, stunted limb growth, bone deformities, lumpy vascular malformations, and fractures. There is a risk that the multiple enchondromas can become malignant, so regular monitoring is advised. Surgery may be required for removal of malignant tumors or damaged bone and joint tissue.