Symptoms & Signs
Maffucci syndrome presents from birth (congenital) in affected individuals. Signs and symptoms of the disease can be detected at birth, though usually not evident until five years of age. People with this disorder usually have a normal life expectancy and intelligence.
Following are the commonly noted symptoms.
- Malformation of veins (hemangioma): superficial or deep. When the skin is affected it often stand out like a soft bluish bumps (nodules).
- Benign cartilaginous tumor (enchondroma): Found anywhere on the body, but usually noted on the hands / feet or the long bones of arms or legs found. This can weaken the bones and may cause a pathological fracture. About 30% of these growths cancers can turn malignant.
- Bone deformities: Length of the long bones may get affected, resulting in limb shortening, in any side. Bones become weak and subjected to fracture easily. Misalignment of healing bones post fracture is also noted.
- Physical disability: The degree of physical disability depends on their skeletal deformities, but in most cases, they have no significant limitations in their activities.
- Lymphangioma: Those affected have occasionally developed lymphangiomas (abnormally structured lymphatic system, draining tissue fluids. These growths can appear anywhere on the body.