Maffucci Syndrome is a rare genetic disorder characterized by the development of multiple benign bone tumors (enchondromas) and soft tissue tumors (hemangiomas). These tumors typically appear during childhood or adolescence and can affect various parts of the body.
Enchondromas: The most prominent feature of Maffucci Syndrome is the presence of multiple enchondromas. These are non-cancerous tumors that develop within the cartilage, usually in the hands and feet. Enchondromas can cause bone deformities, growth abnormalities, and limb length discrepancies. They may also lead to bone fractures and chronic pain.
Hemangiomas: Another characteristic symptom of Maffucci Syndrome is the development of hemangiomas, which are abnormal growths of blood vessels. These soft tissue tumors can occur in various locations, including the skin, muscles, and internal organs. Hemangiomas may cause swelling, discoloration, and pain in the affected areas.
Asymmetry: Maffucci Syndrome often leads to asymmetrical growth and development of the affected body parts. This can result in differences in limb length, joint deformities, and uneven distribution of tumors. The asymmetry may cause functional impairments and difficulties with mobility.
Skeletal abnormalities: Individuals with Maffucci Syndrome may experience skeletal abnormalities beyond the presence of tumors. These can include bone thinning (osteoporosis), abnormal curvature of the spine (scoliosis), and joint abnormalities such as limited range of motion or joint contractures.
Increased risk of complications: Maffucci Syndrome carries an increased risk of complications due to the presence of tumors. Enchondromas can lead to bone fractures, which may be more frequent and severe in affected individuals. Additionally, there is a small risk of malignant transformation, where the benign tumors become cancerous.
Other features: Some individuals with Maffucci Syndrome may also exhibit additional features, such as abnormal blood clotting, lymphedema (swelling due to impaired lymphatic drainage), and intellectual disabilities. However, these additional features are less common and vary in their occurrence.
It is important to note that the severity and specific symptoms of Maffucci Syndrome can vary widely among affected individuals. Some individuals may have a milder form of the condition with fewer tumors and minimal functional impairments, while others may experience more extensive tumor growth and significant physical limitations.