Maffucci Syndrome is a rare disorder characterized by the development of multiple enchondromas, which are noncancerous tumors that form in the cartilage. These tumors typically affect the bones of the hands and feet, but can also occur in other parts of the body. In addition to enchondromas, individuals with Maffucci Syndrome may also develop soft tissue hemangiomas, which are abnormal growths of blood vessels.
The exact cause of Maffucci Syndrome is currently unknown. It is believed to be caused by spontaneous genetic mutations that occur early in fetal development. These mutations affect the cells responsible for bone and cartilage formation, leading to the development of enchondromas and hemangiomas. However, it is important to note that Maffucci Syndrome is not inherited in a typical autosomal dominant or recessive manner.
Although Maffucci Syndrome is not considered to be directly hereditary, there have been a few reported cases of multiple family members being affected. This suggests that there may be a genetic predisposition or susceptibility to developing the disorder. However, more research is needed to fully understand the genetic factors involved in Maffucci Syndrome.
Due to the rarity of Maffucci Syndrome, genetic counseling is often recommended for individuals and families affected by the disorder. Genetic counselors can provide information about the potential risks of passing on the condition to future generations and offer support and guidance.