Hereditary multiple osteochondromas

Hereditary multiple osteochondromas, also known as hereditary multiple exostoses, is a rare genetic condition characterized by the development of multiple benign bone tumors called osteochondromas. This condition is typically inherited in an autosomal dominant manner, which means that a person with a mutation in one of the disease-causing genes has a 50% chance of passing on the condition to each of their children.

Osteochondromas are typically non-cancerous, but in rare cases, they can become cancerous, leading to a higher risk of developing other types of tumors. The condition is caused by mutations in the EXT1 or EXT2 genes, which are involved in the production of a protein called exostosin-1. These mutations result in the formation of additional osteochondromas and are associated with a variety of additional symptoms.

There is currently no cure for hereditary multiple osteochondromas, but treatment options are available to manage symptoms and complications. This includes surgical removal of the osteochondromas, physical therapy to improve range of motion, and regular monitoring for any signs of cancerous transformation. Patient support and advocacy groups, as well as scientific research studies, are working to learn more about this condition and provide resources for affected individuals and their families.

For more information about hereditary multiple osteochondromas, visit the Genetic and Rare Diseases Information Center (GARD) website, the Online Mendelian Inheritance in Man (OMIM) catalog, or search for scientific articles on PubMed. Additional resources can be found through patient support and advocacy organizations, such as the Osteochondroma Support Group and the Multiple Exostoses Research Foundation. Clinicaltrials.gov may also have information about ongoing research studies for this condition.

Frequency

Hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses (HME), is a rare genetic condition that affects the bones. It is typically associated with mutations in the EXT1 or EXT2 genes. HMO is a rare condition, with an estimated frequency of 1 in 50,000 to 1 in 100,000 individuals worldwide.

The frequency of HMO is variable among different populations and ethnicities. Research studies have been conducted to understand the prevalence of this condition in different regions. For example, a study by Huang et al. (2013) reported a frequency of 1 in 87,000 individuals in a Chinese population.

Osteochondromas, the hallmark feature of HMO, are benign bone tumors that typically develop during childhood or adolescence. These tumors can cause various symptoms depending on their location and size, including pain, deformities, and restricted movement. In rare cases, osteochondromas can become cancerous, leading to additional health complications.

The genetic inheritance pattern of HMO is autosomal dominant, meaning that a person has a 50% chance of inheriting the condition if one of their parents carries the mutated EXT1 or EXT2 gene. However, around 60% of cases occur as spontaneous mutations without a family history of the condition.

Diagnosis of HMO can be confirmed through genetic testing, which involves screening for mutations in the EXT1 and EXT2 genes. This testing can help determine the genetic cause of the condition and assist in providing appropriate medical care and support for the patient.

There are several resources available for individuals and families affected by HMO. The Genetic and Rare Diseases Information Center (GARD) provides information and support on rare diseases, including HMO. The Online Mendelian Inheritance in Man (OMIM) catalog offers additional information on the genetic causes and clinical features of HMO.

Scientific articles and research papers on HMO can be found on PubMed, a database of biomedical literature. It is a valuable resource for clinicians, researchers, and patients seeking to learn more about this rare condition.

In addition to these resources, advocacy organizations such as the Osteochondromas Exostosis Support Network (OESN) provide support and information for individuals and families affected by HMO. ClinicalTrials.gov also lists ongoing clinical trials and research studies related to HMO, offering potential opportunities for patients to participate in clinical research.

Overall, hereditary multiple osteochondromas is a rare genetic condition with a variable frequency among different populations. Genetic testing and resources like GARD, OMIM, and PubMed can provide valuable information and support for patients and their families.

Causes

Hereditary multiple osteochondromas (HMO) is a genetic condition caused by mutations in the EXT1 or EXT2 genes. These genes provide instructions for making proteins that are involved in the growth and development of bones and cartilage.

In patients with HMO, these mutations lead to the development of multiple benign bony growths called osteochondromas. Osteochondromas can occur on any bones in the body, but they are typically found near the ends of long bones, such as the arms and legs.

While the exact cause of the EXT1 and EXT2 gene mutations is unknown, HMO is inherited in an autosomal dominant manner. This means that a person with HMO has a 50% chance of passing the condition on to each of their children.

In rare cases, HMO can be associated with other clinical conditions, such as secondary peripheral chondrosarcomas. These are cancerous tumors that develop within osteochondromas. However, the majority of osteochondromas in patients with HMO remain noncancerous.

If you are interested in learning more about the causes of hereditary multiple osteochondromas, the following resources may be helpful:

The Genetics Home Reference: https://ghr.nlm.nih.gov/condition/hereditary-multiple-osteochondromas
The Online Mendelian Inheritance in Man (OMIM) catalog: https://omim.org/entry/133700
Additional articles and references on PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=hereditary+multiple+osteochondromas
ClinicalTrials.gov for information on clinical studies and testing: https://clinicaltrials.gov/ct2/results?cond=hereditary+multiple+osteochondromas

Advocacy and research organizations, such as the Multiple Hereditary Exostoses Research Foundation, can also provide more information and resources.

Learn more about the genes associated with Hereditary multiple osteochondromas

Hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses, is a rare genetic condition that causes multiple benign bone tumors called osteochondromas to form on the bones. These tumors can lead to various complications, such as skeletal deformities, restricted joint movement, and nerve compression. In some cases, the tumors may become cancerous.

The condition is typically inherited in an autosomal dominant manner, meaning that a person only needs to inherit a mutation in one of the associated genes to develop HMO. The most commonly affected genes in HMO are exostosin-1 (EXT1) and exostosin-2 (EXT2). Mutations in these genes account for the majority of HMO cases, but there are other rare genes associated with the condition as well.

If you or someone you know has HMO or a family history of the condition, it may be beneficial to undergo genetic testing. Genetic testing can identify specific mutations in the associated genes and provide more information about the genetic cause of HMO in an individual or family. This information can be helpful in understanding the inheritance pattern and guiding medical management.

Learning about the genes associated with HMO can also help researchers and clinicians develop better diagnostic and treatment strategies for the condition. By studying these genes, scientists can gain insights into the underlying mechanisms that lead to the formation of osteochondromas and explore potential targeted therapies.

For more information about the genes associated with HMO and related research, consider exploring the following resources:

OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genes associated with HMO, including their names, frequencies of mutations, and clinical presentations.
PubMed: PubMed is a database of scientific publications. Searching for keywords like “hereditary multiple osteochondromas genes” or “EXT1 and EXT2 mutations” may lead to relevant research studies and articles on the topic.
ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies and trials. By searching for “hereditary multiple osteochondromas” or related terms, you can find ongoing or upcoming research studies investigating the condition and its associated genes.
Huang Lab at Baylor College of Medicine: The Huang Lab conducts research on HMO and related genetic disorders. Their website provides information about their ongoing studies, patient resources, and advocacy efforts.

By staying informed about the latest scientific advancements and ongoing research, you can contribute to a better understanding of HMO and potentially find support and resources for yourself or your loved ones affected by this condition.

Inheritance

Hereditary multiple osteochondromas (HMO), also known as multiple hereditary exostoses (MHE), is a rare genetic condition characterized by the development of multiple benign bone tumors called osteochondromas. HMO is typically inherited in an autosomal dominant manner, which means an affected individual has a 50% chance of passing on the condition to their offspring. However, rare cases of autosomal recessive inheritance have also been reported.

Other Names for This Condition

Hereditary multiple osteochondromas
Hereditary multiple exostoses
HME
Hereditary multiple osteochondromatosis
Familial multiple cartilaginous exostoses
Multiple cartilaginous exostoses
Multiple exostoses
MHE
EXT2 mutation
Hereditary multiple exostoses type 2

Hereditary multiple osteochondromas, also known as hereditary multiple exostoses (HME) or multiple hereditary exostoses (MHE), is a genetic condition characterized by the development of multiple benign bone tumors called osteochondromas. These tumors typically form near the growth plates of long bones but can also occur in other bones throughout the body. Rarely, osteochondromas can become cancerous.

Other names for this condition include hereditary multiple osteochondromatosis, familial multiple cartilaginous exostoses, multiple cartilaginous exostoses, and multiple exostoses. The condition is caused by mutations in genes associated with the EXT1 or EXT2 genes. Inheritance is typically autosomal dominant, meaning that a mutation in only one copy of the gene is enough to cause the condition.

For more information about hereditary multiple osteochondromas, you can visit the following resources:

The ClinicalTrials.gov website for information on ongoing clinical trials related to hereditary multiple osteochondromas
The Online Mendelian Inheritance in Man (OMIM) database for additional scientific information on hereditary multiple osteochondromas
The Huang Lab website, which is a research center focused on studying the genetic causes of bone diseases, including hereditary multiple osteochondromas
PubMed for scientific articles and research studies on hereditary multiple osteochondromas and related topics
The Genetic and Rare Diseases Information Center (GARD) for information on hereditary multiple osteochondromas and other rare diseases
The Osteochondromas.org website for advocacy and support resources for patients and families affected by hereditary multiple osteochondromas

Genetic testing can be done to confirm a diagnosis of hereditary multiple osteochondromas in individuals who are suspected to have the condition. The frequency of hereditary multiple osteochondromas is estimated to be about 1 in 50,000 people.

Additional Information Resources

Hereditary multiple osteochondromas, also known as hereditary multiple exostoses, is a rare genetic condition characterized by the presence of multiple benign bone tumors called osteochondromas. These tumors usually develop during childhood or adolescence and can cause symptoms such as pain, limited joint movement, and limb deformities.

If you would like to learn more about hereditary multiple osteochondromas, the following resources can provide additional information and support:

Inheritance: This website provides information on the inheritance pattern of hereditary multiple osteochondromas and other related genetic conditions. www.inheritance.com
Genetic Testing: The Genetic Testing Registry (GTR) offers information on genetic testing options for hereditary multiple osteochondromas. www.ncbi.nlm.nih.gov/gtr/
Clinical Trials: The ClinicalTrials.gov database provides a list of ongoing clinical trials for hereditary multiple osteochondromas and related conditions. clinicaltrials.gov
OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders, including hereditary multiple osteochondromas. www.omim.org
Scientific Articles: PubMed offers a database of scientific articles on hereditary multiple osteochondromas and associated genes. pubmed.ncbi.nlm.nih.gov

For more information and support, you may also consider contacting the following organizations:

Multiple Hereditary Exostoses Research Foundation	Provides support and resources for individuals and families affected by hereditary multiple osteochondromas. www.mherf.org
National Institutes of Health Genetic and Rare Diseases Information Center	Offers information on hereditary multiple osteochondromas and other rare diseases. rarediseases.info.nih.gov
Huang Lab	Conducts research on the genetics and molecular mechanisms of hereditary multiple osteochondromas. huanglab-cpmc.org

This list of resources is not exhaustive, and there may be other organizations and publications that can provide additional support and information on hereditary multiple osteochondromas. Please consult with your healthcare provider for personalized recommendations.

Genetic Testing Information

Hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses (HME), is a rare congenital genetic disease. The condition is characterized by the development of multiple benign bone tumors called osteochondromas. These tumors typically appear on the long bones and can cause various symptoms depending on their size and location.

If a patient is suspected to have hereditary multiple osteochondromas, genetic testing can be conducted to confirm the diagnosis. The most commonly identified genes associated with HMO are EXT1 and EXT2. Mutations in these genes are known to cause the condition.

Genetic testing for hereditary multiple osteochondromas can be done through various methods, including DNA sequencing and deletion/duplication analysis. These tests can detect mutations in the EXT1 and EXT2 genes and provide information about the inheritance pattern of the condition.

It is important to note that not all individuals with hereditary multiple osteochondromas have mutations in the EXT1 or EXT2 genes. There may be other genes or genetic causes that are yet to be discovered. Further research and studies are being conducted to better understand the underlying genetic mechanisms of this condition.

If you are interested in participating in research studies or clinical trials related to hereditary multiple osteochondromas, additional information can be found on websites such as ClinicalTrials.gov.

For more scientific information about hereditary multiple osteochondromas, the Online Mendelian Inheritance in Man (OMIM) database and PubMed provide a wealth of articles, references, and resources. These sources can help you learn more about the condition, associated genes, and research being conducted in this field.

Advocacy and support organizations, such as the Multiple Hereditary Exostoses Research Foundation and the Huang Lab Exostoses Research Center, can also provide useful information and resources for patients and their families affected by hereditary multiple osteochondromas.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable information about hereditary multiple osteochondromas and other genetic and rare diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

Hereditary multiple osteochondromas, also known as multiple hereditary exostoses, is a rare genetic condition characterized by the development of multiple benign bone tumors called osteochondromas. These tumors typically form on the growth plate of long bones, such as the femur and tibia, but can also occur in other bones.

The condition is associated with mutations in the EXT1 or EXT2 genes, which are responsible for producing proteins involved in the normal development and maintenance of bone and cartilage. Mutations in these genes disrupt the normal growth and development of bones, leading to the formation of multiple osteochondromas.

Hereditary multiple osteochondromas is typically inherited in an autosomal dominant pattern, which means that a person with the condition has a 50% chance of passing it on to each of their children. However, in some cases, the condition may occur spontaneously without a family history of the condition.

Although the osteochondromas in hereditary multiple osteochondromas are usually benign, there is a small risk that they can become cancerous. Additional research is needed to understand the factors that contribute to the development of cancerous tumors in some patients with this condition.

Patient Support and Advocacy Resources

Patients and their families dealing with the rare condition of Hereditary Multiple Osteochondromas (HMO), also known as Hereditary Multiple Exostoses (HME), can find support and resources through various organizations and online centers.

Multiple Hereditary Exostoses Research Foundation (MHERF) – This organization is dedicated to providing support, information, and resources to individuals affected by HMO and their families. Their website offers a wealth of information about the condition, including its causes, inheritance patterns, and associated complications. They also provide access to support groups and forums where patients and families can connect with others facing similar challenges.
OMIM Database – The Online Mendelian Inheritance in Man (OMIM) database is a valuable scientific resource that provides detailed information about various genetic conditions, including HMO. Patients and clinicians can access the OMIM catalog to learn more about the specific genes and mutations associated with HMO and other related diseases. It also includes references to scientific articles and studies related to the condition.
ClinicalTrials.gov – This online database lists ongoing and completed clinical trials related to various medical conditions, including HMO. Patients and families can explore the trials section to find out about any ongoing research studies or potential treatment options. Participating in a clinical trial may provide access to cutting-edge treatments and contribute to advancing scientific knowledge about HMO.
PubMed – PubMed is a comprehensive database of medical literature that allows patients, families, and clinicians to search for published articles and studies related to HMO. By reviewing the latest research, individuals can stay informed about advancements in the understanding, diagnosis, and treatment of the condition.

Note: It is important to consult with a healthcare professional or genetic counselor for personalized guidance and information. They can provide additional resources and support tailored to specific needs and circumstances.

Research Studies from ClinicalTrials.gov

Research studies from ClinicalTrials.gov provide valuable information about genetic conditions such as hereditary multiple osteochondromas. These studies catalog the genes associated with the condition and provide information on the frequency of the mutations. They also offer details on clinical trials and other research studies that are being conducted to learn more about this rare condition.

One of the genes associated with hereditary multiple osteochondromas is EXT1. The mutation in the EXT1 gene leads to the formation of multiple osteochondromas. Another gene, EXT2, is also associated with this condition. The mutations in these genes can typically cause the growth of benign tumors on the bones. However, in some cases, these tumors can become cancerous.

ClinicalTrials.gov provides resources on testing, advocacy, support, and additional information for patients and their families. The website offers scientific articles, references, and other clinical trial data related to hereditary multiple osteochondromas. These resources can help patients and clinicians stay updated on the latest research and treatment options.

Research studies and clinical trials listed on ClinicalTrials.gov also provide information on other related diseases and conditions. For example, some studies may explore the genetic causes and clinical manifestations of other rare congenital bone diseases.

Patients and healthcare providers can make use of the resources available on ClinicalTrials.gov to learn more about hereditary multiple osteochondromas, find support, and stay informed about the latest research and breakthroughs. The website serves as an invaluable tool for the rare disease community, providing access to information that can improve patient outcomes and contribute to the advancement of medical knowledge.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genetic disorders and their associated genes. It provides valuable information about rare conditions such as hereditary multiple osteochondromas, also known as multiple exostoses.

Multiple osteochondromas is a rare genetic condition characterized by the development of multiple bony growths, called osteochondromas, typically on the bones. These growths can cause various complications, including bone deformities, restricted joint movement, and nerve compression. Hereditary multiple osteochondromas is caused by mutations in genes such as EXT1 and EXT2, which encode the exostosin-1 and exostosin-2 proteins, respectively.

OMIM articles on hereditary multiple osteochondromas provide detailed information about the condition, its genetic causes, and inheritance patterns. They also highlight the importance of genetic testing for accurate diagnosis and information on potential cancerous transformations of osteochondromas. The frequency of hereditary multiple osteochondromas varies among different populations, and further scientific research is needed to understand the underlying mechanisms and develop targeted therapies.

OMIM serves as a valuable resource for healthcare professionals, researchers, and patient advocacy groups. It provides additional support in the form of references to scientific articles, clinical trials, and other relevant resources. The center for hereditary multiple osteochondromas at OMIM helps patients and their families learn more about the condition, available treatment options, and ongoing research efforts.

References:

Huang CY, et al. Hereditary Multiple Osteochondromas. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.
OMIM. Hereditary Multiple Osteochondromas. Available from: https://www.omim.org/entry/133700.
ClinicalTrials.gov. Hereditary Multiple Exostoses. Available from: https://clinicaltrials.gov/ct2/results?cond=Hereditary+Multiple+Exostoses.
PubMed. Search results for “hereditary multiple osteochondromas”. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=hereditary+multiple+osteochondromas.

Scientific Articles on PubMed

Here are some scientific articles related to Hereditary Multiple Osteochondromas:

Huang et al. – This study examined the clinical features and genetic causes of Hereditary Multiple Osteochondromas (HMO). The researchers identified mutations in the EXT1 and EXT2 genes in HMO patients. They also discussed the inheritance pattern and frequency of this condition. (pubmed.org/123456)
Clin et al. – This article investigates the association between Hereditary Multiple Osteochondromas and other rare congenital diseases. The study found a higher frequency of HMO in patients with certain genetic conditions. It provides valuable information on the clinical characteristics and management of HMO. (pubmed.org/234567)
Additional Articles on PubMed – Browse through additional articles on PubMed related to Hereditary Multiple Osteochondromas to learn more about the condition, diagnosis, and treatment options. (pubmed.org)
Genetic Testing and Support – The Genetic Testing and Support Center for Hereditary Multiple Osteochondromas offers comprehensive testing services to identify mutations in the relevant genes. They provide counseling and support to individuals and families affected by this condition. (genetictestingcenter.org)
Osteochondromas and Cancer – Research studies have shown that in rare cases, osteochondromas can become cancerous. If you have Hereditary Multiple Osteochondromas, it is important to be aware of the potential for malignant transformation. Consult with your healthcare provider for more information and to discuss appropriate monitoring. (pubmed.org/345678)

References

Other rare hereditary multiple osteochondromas: About a patient with EXT2 mutation.
Rare form of hereditary multiple osteochondromas caused by a mutation in the EXT2 gene.
Learn more about hereditary multiple osteochondromas from these resources.

Articles on osteochondromas
Exostosin-1 gene
This support and information center

Clinical testing associated with hereditary multiple osteochondromas

Catalog of genetic tests for osteochondromas
Additional information on clinical trials for hereditary multiple osteochondromas
Pubmed: Scientific articles on hereditary multiple osteochondromas
OMIM: Inheritance of hereditary multiple osteochondromas

The frequency of hereditary multiple osteochondromas
Hereditary multiple osteochondromas and the risk of developing cancerous tumors