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Maffucci syndrome

Other Names for this Disease
  • Dyschondrodysplasia with Hemangiomas
  • Enchondromatosis with Multiple Cavernous Hemangiomas
  • Hemangiomatosis Chondrodystrophica
  • Kast Syndrome
  • Multiple Angiomas and Endochondromas
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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).[1][2] 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.[1]
Last updated: 1/31/2011


  1. Maffucci syndrome. Genetics Home Reference (GHR). 2010; Accessed 1/31/2011.
  2. Maffucci Syndrome. Madisons Foundation. 2004;,com_mpower/Itemid,49/diseaseID,457/. Accessed 1/31/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Maffucci syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Maffucci syndrome. Click on the link to view a sample search on this topic.