Maffucci Syndrome, also known as Maffucci's Syndrome or Maffucci Disease, is a rare non-hereditary disorder characterized by the presence of multiple enchondromas (benign cartilage tumors) and hemangiomas (abnormal blood vessel growths). These tumors typically affect the bones and soft tissues of the limbs, causing deformities, pain, and an increased risk of fractures.
While Maffucci Syndrome is the most commonly used term to describe this condition, there are a few other synonyms that are occasionally used:
It is important to note that Maffucci Syndrome is distinct from Ollier disease, another rare disorder characterized by multiple enchondromas. While both conditions involve the development of enchondromas, Maffucci Syndrome is distinguished by the additional presence of hemangiomas.
Early diagnosis and appropriate management of Maffucci Syndrome are crucial to minimize complications and improve the quality of life for affected individuals. Regular monitoring, imaging studies, and surgical interventions may be necessary to address the skeletal abnormalities and manage potential complications.