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Disease Profile
Melorheostosis
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.
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Age of onset
All ages
ICD-10
M85.8
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
Categories
Congenital and Genetic Diseases; Connective tissue diseases; Musculoskeletal Diseases
Summary
Melorheostosis is a rare skeletal abnormality that causes abnormal growth of new bone
Isolated melorheostosis (with no other associated disorders) is typically sporadic, occurring in people with no
Management depends on the severity and symptoms in each person and aims to relieve pain, correct deformity, and restore movement.[6] Management options may include medications,
Symptoms
Most people with melorheostosis have pain, which can be chronic (long-lasting) and may range from from dull to sharp and penetrating. Hardening of the skin and
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 | ||
Arthralgia |
Joint pain
|
0002829 |
Bone pain | 0002653 | |
Cranial nerve paralysis | 0006824 | |
Ectopic ossification in muscle tissue |
Calcification of muscle tissue
|
0011987 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Hyperostosis |
Bone overgrowth
|
0100774 |
Increased bone mineral density |
Increased bone density
|
0011001 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
Lymphedema |
Swelling caused by excess lymph fluid under skin
|
0001004 |
Skeletal dysplasia | 0002652 | |
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ] |
0003202 |
30%-79% of people have these symptoms | ||
Lower limb asymmetry |
Left and right leg differ in length or width
|
0100559 |
Upper limb asymmetry |
Unequal size of arms
|
0100560 |
5%-29% of people have these symptoms | ||
Joint inflammation
|
0001369 | |
Atypical scarring of skin |
Atypical scarring
|
0000987 |
Peripheral arteriovenous fistula | 0100784 | |
Percent of people who have these symptoms is not available through HPO | ||
Progressive |
Worsens with time
|
0003676 |
Sporadic |
No previous family history
|
0003745 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
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The main differential diagnoses include bone tumors generating dense bone such as osteosarcoma, as well as osteopathia striata, osteopoikilosis, myositis ossificans progressiva (see these terms) and osteoma. Rarely, in families with osteopoikilosis or Buschke-Ollendorf syndrome, patients with melorheostosis may be present (as seen in melorheostosis with osteopoikilosis) (see these terms).
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Melorheostosis Association
410 East 50th Street
New York, NY 10022
E-mail: [email protected]; [email protected]
Website: https://www.melorheostosis.com/
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 Melorheostosis. 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
- 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 Melorheostosis. Click on the link to view a sample search on this topic.
References
- Gagliardi GG, Mahan KT. Melorheostosis: a literature review and case report with surgical considerations. J Foot Ankle Surg. 2010 Jan-Feb; 49(1):80-5. Accessed 6/16/2015.
- Smith GC, Pingree MJ, Freeman LA, et al. Melorheostosis: A Retrospective Clinical Analysis of 24 Patients at the Mayo Clinic. PM R. March, 2017; 9(3):283-288. https://www.ncbi.nlm.nih.gov/pubmed/27485676.
- Kotwal A, Clarke BL. Melorheostosis: a Rare Sclerosing Bone Dysplasia. Curr Osteoporos Rep. August, 2017; 15(4):335-342. https://www.ncbi.nlm.nih.gov/pubmed/28676968.
- Kang H, Jha S, Deng Z, et al. Somatic activating mutations in MAP2K1 cause melorheostosis. Nat Commun. April 11, 2018; 9(1):1390. https://www.nature.com/articles/s41467-018-03720-z.
- Melorheostosis. Genetics Home Reference (GHR). May, 2018; https://ghr.nlm.nih.gov/condition/melorheostosis.
- Mortier G. Melorheostosis. Orphanet. November, 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2485.
- Roger D, Bonnetblanc JM, Leroux-Robert C. Melorheostosis with associated minimal change nephrotic syndrome, mesenteric fibromatosis and capillary haemangiomas. Dermatology. 1994; 188:166-168. Accessed 6/17/2015.
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