Maffucci Syndrome is a rare genetic disorder characterized by multiple enchondromas (benign tumors of cartilage) and hemangiomas (benign tumors of blood vessels). It is caused by a mutation in the IDH1 or IDH2 gene. Symptoms may include bone deformities, limb length discrepancies, and skeletal abnormalities. Treatment typically involves surgery to remove the tumors and physical therapy to help with any mobility issues.

The most common symptoms of Maffucci Syndrome include:

-Multiple enchondromas (benign bone tumors)

-Soft tissue tumors (hemangiomas)

-Skeletal deformities

-Bone pain

-Joint pain

-Limb length discrepancies

-Growth retardation

-Frequent fractures

-Hemorrhage

-Anemia

-Lymphadenopathy

-Hepatomegaly

-Splenomegaly

-Cafe-au-lait spots

-Neurofibromas

-Lymphangiomas

-Hemangiopericytomas

Maffucci Syndrome is a rare genetic disorder caused by a mutation in the IDH1 or IDH2 gene. This mutation causes an overproduction of certain proteins, which can lead to the formation of benign tumors and malformations of the bones. There is no known cause for the mutation, but it is believed to be inherited in an autosomal dominant pattern.

The main treatment for Maffucci Syndrome is surgical removal of the enchondromas. This is usually done to reduce the risk of malignant transformation and to improve the patient's quality of life. Other treatments may include physical therapy, orthopedic braces, and medications to reduce pain and inflammation. In some cases, radiation therapy may be used to shrink the enchondromas.

The exact cause of Maffucci Syndrome is unknown, but it is believed to be related to genetic mutations. Risk factors for Maffucci Syndrome include:

• Family history of the disorder

• Exposure to radiation

• Exposure to certain chemicals

• Certain viral infections

• Certain medications

• Certain environmental factors

At this time, there is no cure for Maffucci Syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. This may include medications to reduce pain, physical therapy to improve mobility, and surgery to remove tumors or correct bone deformities.