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Diseases

Genetic and Rare Diseases Information Center (GARD)

Maffucci syndrome


Other Names for this Disease
  • Dyschondrodysplasia with Hemangiomas
  • Enchondromatosis with Multiple Cavernous Hemangiomas
  • Hemangiomatosis Chondrodystrophica
  • Kast Syndrome
  • Multiple Angiomas and Endochondromas
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

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How might Maffucci syndrome be treated?

Management aims at relief of symptoms and early detection of malignancies.[1]

Individuals with Maffucci syndrome may benefit from consultations with the following specialists:[2]

  • Radiologist: Radiography or CT scanning performed periodically to evaluate bone changes.
  • Orthopedic surgeon: An orthopedic surgeon may be consulted to evaluate bone changes and skeletal neoplasms and to help in treatment of fractures associated with the disease.
  • Dermatologist: A dermatologist may be consulted to evaluate hemangiomas associated with the condition and to identify any new lesions on the skin.
Last updated: 7/28/2014

References
  1. Maffucci syndrome. Orphanet. 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=163634. Accessed 7/28/2014.
  2. Kuwahara RT, Rasberry R. Maffucci Syndrome. Medscape Reference. April 29, 2014; http://emedicine.medscape.com/article/1111804-overview. Accessed 7/28/2014.


GARD Video Tutorial

  • Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.

    Finding Treatment Information

Clinical Trials & Research for this Disease

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
Other Names for this Disease
  • Dyschondrodysplasia with Hemangiomas
  • Enchondromatosis with Multiple Cavernous Hemangiomas
  • Hemangiomatosis Chondrodystrophica
  • Kast Syndrome
  • Multiple Angiomas and Endochondromas
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.