Rare Nephrology News

Disease Profile

Maffucci syndrome

Prevalence
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

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

Dyschondrodysplasia with Hemangiomas; Enchondromatosis with Multiple Cavernous Hemangiomas; Hemangiomatosis Chondrodystrophica;

Categories

Blood Diseases; Congenital and Genetic Diseases; Musculoskeletal Diseases;

Summary

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]

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
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

Treatment

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.

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

  1. Maffucci syndrome. Genetics Home Reference (GHR). 2010; https://ghr.nlm.nih.gov/condition/maffucci-syndrome. Accessed 7/28/2014.
  2. Maffucci syndrome. Orphanet. 2009; https://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; https://emedicine.medscape.com/article/1111804-overview. Accessed 7/28/2014.

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