What is the prevalence of Maffucci Syndrome?
How many people does Maffucci Syndrome affect? Does it have the same prevalence in men and women? And in the different countries?
Maffucci Syndrome is a rare disorder characterized by the presence of multiple enchondromas (benign cartilage tumors) and hemangiomas (abnormal blood vessel growths). It is estimated that the prevalence of Maffucci Syndrome is extremely low, affecting less than 1 in 100,000 individuals worldwide. This condition typically manifests in childhood and may lead to skeletal deformities, bone fractures, and an increased risk of certain cancers. Due to its rarity, early diagnosis and appropriate medical management are crucial for individuals with Maffucci Syndrome.
Maffucci Syndrome is an extremely rare disorder characterized by the presence of multiple enchondromas (benign cartilage tumors) and hemangiomas (abnormal blood vessel growths). The prevalence of Maffucci Syndrome is not well-established due to its rarity and the lack of comprehensive data. However, it is estimated to affect approximately 1 in 100,000 to 1 in 1,000,000 individuals worldwide.
This condition typically manifests in childhood or early adolescence and affects both males and females equally. The exact cause of Maffucci Syndrome remains unknown, and it is not believed to be inherited in a typical Mendelian pattern. The enchondromas and hemangiomas associated with this syndrome can occur in various parts of the body, including the limbs, hands, feet, and spine.
While Maffucci Syndrome is considered a non-hereditary disorder, it is thought to arise from somatic mutations in the IDH1 or IDH2 genes. These mutations are not inherited but occur during embryonic development. Due to the rarity of Maffucci Syndrome, diagnosis and management often require a multidisciplinary approach involving orthopedic surgeons, radiologists, and dermatologists.
