National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Maffucci syndrome


Other Names:
Dyschondrodysplasia with Hemangiomas; Enchondromatosis with Multiple Cavernous Hemangiomas; Hemangiomatosis Chondrodystrophica; Dyschondrodysplasia with Hemangiomas; Enchondromatosis with Multiple Cavernous Hemangiomas; Hemangiomatosis Chondrodystrophica; Kast Syndrome; Multiple Angiomas and Endochondromas; Enchondromatosis type II (former); Chondrodysplasia with hemangioma; Chondroplasia angiomatosis; Enchondromatosis with hemangiomata See More
Categories:
This disease is grouped under:
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] 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: 7/28/2014

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Hemangiomatosis 0007461
Multiple enchondromatosis 0005701
Osteolysis
Breakdown of bone
0002797
Venous thrombosis
Blood clot in vein
0004936
30%-79% of people have these symptoms
Bone pain 0002653
Exostoses
Formation of new noncancerous bone on top of existing bone
0100777
Scoliosis 0002650
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Subcutaneous nodule
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] 		0001482
5%-29% of people have these symptoms
Astrocytoma 0009592
Breast carcinoma
Breast cancer
0003002
Cerebral palsy 0100021
Chondrosarcoma 0006765
Cranial nerve paralysis 0006824
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] 		0002015
Goiter
Enlarged thyroid gland in neck
0000853
Neoplasm of the adrenal cortex 0100641
Ovarian neoplasm
Ovarian tumor
0100615
Parathyroid adenoma 0002897
Pituitary adenoma
Noncancerous tumor in pituitary gland
0002893
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ] 		0002757
Percent of people who have these symptoms is not available through HPO
Hemangioma
Strawberry mark
0001028
Pathologic fracture
Spontaneous fracture
0002756
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Last updated: 7/1/2020
Management aims at relief of symptoms and early detection of malignancies.[2]

Individuals with Maffucci syndrome may benefit from consultations with the following specialists:[3]

  • 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

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • 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.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • 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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a 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.

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  • How might Maffucci syndrome be treated? See answer


  1. Maffucci syndrome. Genetics Home Reference (GHR). 2010; http://ghr.nlm.nih.gov/condition/maffucci-syndrome. Accessed 7/28/2014.
  2. Maffucci syndrome. Orphanet. 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=163634. Accessed 7/28/2014.
  3. Kuwahara RT, Rasberry R. Maffucci Syndrome. Medscape Reference. April 29, 2014; http://emedicine.medscape.com/article/1111804-overview. Accessed 7/28/2014.