Hereditary multiple osteochondromas

Title

Other Names:

HMO; Hereditary multiple exostoses; Hereditary multiple exostosis; HMO; Hereditary multiple exostoses; Hereditary multiple exostosis; Multiple exostoses See More

Categories:

Congenital and Genetic Diseases; Metabolic disorders; Musculoskeletal Diseases; Congenital and Genetic Diseases; Metabolic disorders; Musculoskeletal Diseases; Rare Cancers See More

Summary Summary

Hereditary multiple osteochondromas (HMO), also called hereditary multiple exostoses, is a genetic disorder that causes the development of multiple, cartilage-covered tumors on the external surfaces of bones (osteochondromas). The osteochondromas typically become apparent during childhood or adolescence, and the number, size and location of osteochondromas varies from person to person. Signs and symptoms may include pain, decreased range of motion, nerve impingement, deformity, differences in limb length, short stature, and fractures. Osteochondromas of the ribs may cause complications such as a collapsed lung (pneumothorax), hemothorax, or pericardial effusion.^[1]^[2]^[3] Osteochondromas typically grow throughout childhood and stop growing when the growth plates close.^[1] However, they do recur later on in some people.^[1] While the vast majority of osteochondromas are benign (noncancerous), they may become malignant (cancerous) in adulthood in 2% to 5% of people with HMO.^[1]^[2]

Most cases of HMO are caused by a mutation in the EXT1 or EXT2 gene with autosomal dominant inheritance.^[1]^[3] About 96% of females with a mutation responsible for HMO will develop osteochondromas (a phenomenon known as reduced penetrance), and 100% of males will develop osteochondromas.^[1]^[3]

Treatment depends on the locations and sizes of osteochondromas and the severity of symptoms they cause. Examples of treatment options include a "watch and wait" approach (when no symptoms are present), surgical removal of the tumor, corrective osteotomy, and growth plate arrest or limb-lengthening procedures.^[1]^[3] While benign osteochondromas generally do not affect life expectancy, they still may cause a variety of health problems and debilitating symptoms that can impair quality of life.^[2]^[4] Osteochondromas that become malignant (turning into chondrosarcomas or osteosarcomas) can be life-threatening, but the outlook in these cases may depend on the tumor grade.^[2]^[4]

Last updated: 9/4/2018

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormality of the humerus		0003063
Abnormality of tibia morphology	Abnormality of the shankbone Abnormality of the shinbone [ more ]	0002992
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Multiple exostoses		0002762
30%-79% of people have these symptoms
Abnormality of femur morphology	Abnormality of the thighbone	0002823
Abnormality of the dentition	Abnormal dentition Abnormal teeth Dental abnormalities Dental abnormality [ more ]	0000164
Abnormality of the metaphysis	Abnormality of the wide portion of a long bone	0000944
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Avascular necrosis	Death of bone due to decreased blood supply	0010885
Bone pain		0002653
Cranial nerve paralysis		0006824
Genu valgum	Knock knees	0002857
Hypoplasia of the ulna	Underdeveloped inner large forearm bone	0003022
Madelung deformity		0003067
Micromelia	Smaller or shorter than typical limbs	0002983
Muscle weakness	Muscular weakness	0001324
Radial bowing	Bowing of outer large bone of the forearm	0002986
Short stature	Decreased body height Small stature [ more ]	0004322
5%-29% of people have these symptoms
Abnormal pericardium morphology		0001697
Abnormal pyramidal sign		0007256
Chondrosarcoma		0006765
Dilatation	Wider than typical opening or gap	0002617
Elbow dislocation	Dislocations of the elbows Elbow dislocations [ more ]	0003042
Hemiplegia/hemiparesis	Paralysis or weakness of one side of body	0004374
Osteoarthritis	Degenerative joint disease	0002758
Osteolysis	Breakdown of bone	0002797
Pelvic bone exostoses		0003276
Recurrent fractures	Increased fracture rate Increased fractures Multiple fractures Multiple spontaneous fractures Varying degree of multiple fractures [ more ]	0002757
Scoliosis	Abnormal curving of the spine	0002650
Synostosis of joints	Fusion of joints	0100240

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 7/1/2019

Do you have updated information on this disease? We want to hear from you.

Inheritance Inheritance

Inheritance of HMO is autosomal dominant, which means that having a mutation in one copy of a gene responsible for HMO is sufficient to cause a person to develop HMO.^[1]^[3]^[5] In most cases, a person with HMO inherits the mutation from a parent with HMO. Other cases may result from a new mutation in the gene, occurring in people with no family history of HMO.^[1]^[3] About 96% of females with a mutation responsible for HMO will develop osteochondromas (a phenomenon known as reduced penetrance), and 100% of males will develop osteochondromas.^[3] It is not known why some females with a mutation responsible for HMO do not develop signs and symptoms.

Last updated: 9/4/2018

Diagnosis 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.

Related Diseases 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
MO should be distinguished from metachondromatosis, dysplasia epiphysealis hemimelica and Ollier disease (see these terms). Visit the Orphanet disease page for more information.

Research Research

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

ClinicalTrials.gov lists trials that are related to Hereditary multiple osteochondromas. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations 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

MHE and Me- A Support Group for Kids with Multiple Hereditary Exostoses
PO Box 651
Pine Island, NY 10969-0651
Telephone: 845-258-6058
E-mail: mheandme@yahoo.com
Website: http://www.mheandme.com/
MHE Coalition
Telephone: 845-258-6058
E-mail: https://www.mhecoalition.org/contact
Website: http://www.mhecoalition.org
MHE Research Foundation
8019 Harbor View Terrace
Brooklyn, NY 11209
Telephone: 917-848-7774
E-mail: mhefuntasia@gmail.com
Website: https://www.mherf.org/

Social Networking Websites

Visit the MHE Research Foundation on Facebook.

Do you know of an organization? We want to hear from you.

Learn More 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 Hereditary multiple osteochondromas. 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

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
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.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
Orphanet
Orphanet
PubMed is a searchable database of medical literature and lists journal articles that discuss Hereditary multiple osteochondromas. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

Is there information available about the risk of cancer in people with hereditary multiple exostosis? I would like to know what testing etc is required if this is suspected. See answer

Have a question? Contact a GARD Information Specialist.

References References

Tis JE. Benign bone tumors in children and adolescents. UpToDate. Waltham, MA: UpToDate; April 10, 2018; https://www.uptodate.com/contents/benign-bone-tumors-in-children-and-adolescents.
Pacifici M. Hereditary Multiple Exostoses: New Insights into Pathogenesis, Clinical Complications, and Potential Treatments. Send to Curr Osteoporos Rep. June, 2017; 15(3):142-152. https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/28466453/.
Wuyts W, Schmale GA, Chansky HA, & Raskind WH. Hereditary Multiple Osteochondromas. GeneReviews. November 21, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1235/.
Bovee JVMG. Multiple osteochondromas. Orphanet J Rare Dis. 2008; 3:3:https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-3-3.
Hereditary multiple exostoses. Genetics Home Reference. March, 2016; http://ghr.nlm.nih.gov/condition/hereditary-multiple-exostoses.