Maffucci syndrome

Also known as: Maffucci syndrome

What is Maffucci syndrome?

Maffucci syndrome is a rare genetic disorder of unknown cause characterized by benign enlargements of cartilage (enchondromas), bone deformities, and dark, irregularly shaped hemangiomas (both deep and superficial). The disease manifests early on, sometimes at birth, but usually around the age of 4 or 5 years.

What are the signs and symptoms of Maffucci syndrome?

A child with Maffucci syndrome may be brought in to the doctor because the parents have noticed soft, blue-colored growths on the distal aspects of the extremities. Patients are usually short in stature and may have unequal arm and leg lengths due to the bone abnormalities. 

The hemangiomas have been reported in various locations on the body and even in the eyes, pharynx, tongue, trachea, and intestines. The enchondromas are usually found in the hands, but can be found anywhere. The tumors are nodular and can lead to fractures, difficulty walking, and disfigurement.

What are the treatment options for Maffucci syndrome?

Radiologic studies, such as CT and/or MRI’s can help in monitoring any physical and debilitating changes, such as chondrosarcomas, the most common neoplasm in this syndrome. Close follow-up with specialists is key to monitoring every aspect of this syndrome.

This page was last updated on: July 27, 2021 02:45 PM

The International Birthmark Institute

Evaluation and management of all birthmarks with special expertise in vascular birthmarks or vascular anomalies in newborn babies and children.

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