What is Maffucci Syndrome + How it Relates to Ollier’s Disease

What is Maffucci Syndrome + How it Relates to Ollier’s Disease

What is Maffucci Syndrome + How it Relates to Ollier’s Disease

If you’re reading about Ollier’s Disease it won’t be long before you stumble upon Maffucci Syndrome.

“Maffucci syndrome is an extremely rare disorder characterized by benign overgrowths of cartilage (enchondromas), skeletal deformities and cutaneous lesions composed of abnormal blood vessels. Enchondromas arise in bones, most frequently in the hands and feet, and less often in the legs and long bones of the arm.” (3) The lesions typically arise sporadically in early childhood from 1-5 years of age and Maffucci Syndrome is not typically recognizable at birth. (1,2,3)

maffucci syndrome ollier's disease IDH1 IDH2

How are Ollier’s Disease and Maffucci Syndrome associated? 

Maffucci syndrome and Ollier’s Disease are among 3 disorders that present with multiple enchondromas:

  • Ollier disease
  • Maffucci syndrome
  • Metachondromatosis.

In addition to the multiple enchondromas associated with Ollier’s Disease, Maffucci Syndrome is associated with multiple cavernous hemangioma and phlebolith. Lymphangiomas may also be present. (2)

The most common site for enchondromas is the hands, specifically the finger bones (phlanges) and the 5 long bones of the hand that make up the palm region and may be visible with movement from the back (metacarpals).

Genetics or mutation?

Mutation. Currently, there is no known genetic component to Maffucci Syndrome and Ollier’s Disease. The cause of Maffucci syndrome was discovered to be a mutation in a gene IDH1 (rarely IDH2) in 2011. (2) The same gene mutations were found in Ollier disease, further relating the conditions. (2,4)

Differences between Ollier’s Disease and Maffucci Syndrome

Ollier’s Disease, a rare disease with a 1/100,000 statistic, is more common than Maffucci Syndrome. In addition, Ollier’s Disease tends to be more ulilateral (one-sided) compared to Maffucci Syndrome. The hemangiomas and lymphangiomas seen in Maffucci Syndrome are not present in Ollier’s Disease which is limited to enchondromas and often referred to as enchondromatosis on my son’s paperwork.

Terms above:

Enchondroma – Cartilage growths (benign) that develop within the bone. More here.

Cavernous Hemangioma – A Cavernous hemangioma is also called a cavernous angioma, cavernoma, or cerebral cavernous malformation. More here.

Phleobolith – A small, usually round calcification within a vein. More here. 

Lymphangiomas – malformations of the lymphatic system, your network of lymphatic vessels carrying lymph fluid, characterized by lesions that are thin-walled cysts. More here.

(Image below is for Pinterest – please pin to help spread knowledge)


Maffucci Syndrome Resources:

  1. https://en.wikipedia.org/wiki/Maffucci_syndrome
  2. https://ghr.nlm.nih.gov/condition/maffucci-syndrome
  3. https://rarediseases.org/rare-diseases/maffucci-syndrome/
  4. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3427908/


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