Understanding the Origins of Maffucci Syndrome
Maffucci syndrome, an uncommon disorder, is characterized by a genetic mutation that occurs after the fertilization of the egg. Unlike hereditary conditions, this syndrome cannot be passed down from parent to child. It is important to note that Maffucci syndrome is not contagious, as the defect develops in the womb. Due to the nature of how this condition is acquired, there are no preventive measures that parents can take to avoid the genetic mutation. It is also crucial to understand that no one can be held responsible for causing this disorder.
Effects on Cartilage and Bones
Enchondromas have a significant impact on cartilage and bones, particularly in individuals with Ollier and Maffucci disease. These hand tumors, although non-cancerous, slowly develop on the cartilage. In the case of Maffucci syndrome, the hands or feet are primarily affected, leading to the formation of hard knots beneath the skin. This, in turn, causes the bones to bulge, limbs to become bowed, and impairs normal growth. The pelvis’s cartilage can also be affected, although it is less common for the ribs, sternum, and cranial bones to be involved.
Approximately 40% of individuals with Maffucci syndrome experience symptoms on only one side of their body. This imbalance can result in the arms and legs growing unevenly, making activities such as walking challenging. Moreover, enchondromas can increase the risk of repeated bone fractures and further disfigurement due to the distortion and weakening of the bones.