Maffucci syndrome

Print

Disease Overview

Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas (benign enlargements of cartilage), bone deformities, and hemangiomas (tangles of abnormal of blood vessels).[2960] The abnormal growths associated with Maffucci syndrome may become cancerous (malignant). In particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the skull. They also have an increased risk of other cancers, such as ovarian or liver cancer. The underlying cause of Maffucci syndrome is unknown. No specific genes related to this disorder have been identified. Researchers suggest that the condition may be associated with abnormalities occurring before birth in the development of two embryonic cell layers called the ectoderm and the mesoderm.[2960]


Synonyms

  • Enchondromatosis type II (former)
  • Chondrodysplasia with hemangioma
  • Chondroplasia angiomatosis
  • Enchondromatosis with hemangiomata
  • Dyschondrodysplasia with Hemangiomas
  • Enchondromatosis with Multiple Cavernous Hemangiomas
  • Hemangiomatosis Chondrodystrophica
  • Kast Syndrome
  • Multiple Angiomas and Endochondromas

For more information, visit GARD.

National Organization for Rare Disorders