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Disease Profile
Maffucci syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Childhood
ICD-10
Q78.4
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Dyschondrodysplasia with Hemangiomas; Enchondromatosis with Multiple Cavernous Hemangiomas; Hemangiomatosis Chondrodystrophica;
Categories
Blood Diseases; Congenital and Genetic Diseases; Musculoskeletal Diseases;
Summary
Maffucci
Symptoms
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.
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 |
0002650 | ||
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 | |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Goiter |
Enlarged thyroid gland in neck
|
0000853 |
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 |
Treatment
Individuals with Maffucci
- 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.
Learn more
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.
References
- Maffucci syndrome. Genetics Home Reference (GHR). 2010; https://ghr.nlm.nih.gov/condition/maffucci-syndrome. Accessed 7/28/2014.
- Maffucci syndrome. Orphanet. 2009; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=163634. Accessed 7/28/2014.
- Kuwahara RT, Rasberry R. Maffucci Syndrome. Medscape Reference. April 29, 2014; https://emedicine.medscape.com/article/1111804-overview. Accessed 7/28/2014.
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