Maffucci syndrome

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Maffucci syndrome
Enchondroma - very high mag.jpg
Enchondromas are present in Maffucci syndrome
SpecialtyMedical genetics Edit this on Wikidata

Maffucci syndrome is a sporadic disease characterized by the presence of multiple enchondromas associated with multiple cavernous hemangioma and phlebolith.[1][2] Also lymphangiomas may be apparent.[citation needed]

Signs and symptoms[edit]

Patients are normal at birth and the syndrome manifests during childhood and puberty. The enchondromas affect the extremities and their distribution is asymmetrical. The most common sites of enchondromas are the metacarpal bones and phalanges of the hands. The feet are less commonly afflicted. Disfigurations of the extremities are a result. Pathological fractures can arise in affected metaphyses and diaphyses of the long bones and are common (26%). The risk for sarcomatous degeneration of enchondromas, hemangiomas, or lymphangiomas is 15-30% in the setting of Maffucci syndrome. Maffucci syndrome is associated with a higher risk of CNS, pancreatic, and ovarian malignancies. Multiple enchondromas may present in 3 disorders: Ollier disease, Maffucci syndrome, and metachondromatosis. It is important to make the distinction between these diseases, particularly Ollier disease and Maffucci syndrome. Ollier disease is more common than Maffucci syndrome, and presents with multiple enchondromas often in a unilateral distribution. However, hemangiomas and lymphangiomas are not seen in Ollier disease. Metachondromatosis demonstrates autosomal-dominant transmission and presents with both multiple osteochondromas and enchondromas.



Differential diagnosis[edit]

In Ollier disease isolated enchondromas are present without the presence of hemangiomas.


Management entails careful examination and monitoring for malignant degenerations. Surgical interventions can correct or minimize deformities.


It is named for Angelo Maffucci.[3]

See also[edit]


  1. ^ "Maffucci syndrome" at Dorland's Medical Dictionary
  2. ^ Faik A, Allali F, El Hassani S, Hajjaj-Hassouni N (February 2006). "Maffucci's syndrome: a case report". Clin. Rheumatol. 25 (1): 88–91. doi:10.1007/s10067-005-1101-1. PMID 16234991.
  3. ^ synd/1813 at Who Named It?

External links[edit]

External resources