Otospondylomegaepiphyseal dysplasia is a rare genetic condition characterized by abnormalities in the bones and tissues of the body. It is named after the Greek words “otos” (ear), “spondylos” (vertebrae), “mega” (large), and “epiphysis” (end of bone), reflecting the areas most affected by the condition.

People with otospondylomegaepiphyseal dysplasia may experience hearing loss due to abnormalities in the structures of the ear. They may also have skeletal anomalies, such as abnormal vertebrae and enlarged bone ends, which can lead to joint problems and difficulty with mobility. Additionally, this condition can affect the nose, causing a characteristic flattened appearance.

Otospondylomegaepiphyseal dysplasia has a frequency of less than 1 in 1,000,000 individuals. It is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected. Genetic testing can be helpful for diagnosis, and there are resources available for patients and families affected by this condition, including support groups and advocacy organizations.

More information about otospondylomegaepiphyseal dysplasia can be found in scientific articles and medical resources. There is also a genetic registry for this condition, where individuals and families can learn more and connect with others affected by this rare disease. Other names for this condition include Brunner syndrome and Dysplasia, otospondylomegaepiphyseal type.

References:

– Genet. Med. 2021. DermNet NZ. Orphanet. https://pubmed.ncbi.nlm.nih.gov/. https://omim.org/.

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Frequency

Otospondylomegaepiphyseal dysplasia (OSMED) is a rare genetic condition that affects the growth and development of bones and tissues in the body. It is inherited in an autosomal recessive manner, which means that both parents must carry a copy of the mutated gene for a child to be affected. OSMED is caused by mutations in the COL11A2 gene, which codes for a protein called collagen type XI alpha 2. Collagen is a major component of connective tissues in the body, including cartilage and bone.

The prevalence of OSMED is not well established. It is estimated to occur in less than 1 in 1,000,000 individuals. However, the condition may be underdiagnosed and underreported, so the true frequency may be higher. OSMED is more commonly reported in certain populations, such as the Amish community and individuals of Turkish descent.

OSMED can overlap with other genetic conditions, such as Stickler syndrome and Marshall syndrome, which also affect collagen production. These conditions may share similar signs and symptoms, making diagnosis challenging. Genetic testing can help confirm a diagnosis of OSMED and distinguish it from other related conditions.

Resources for patients and families affected by OSMED are available through advocacy groups and rare disease registries. The OSMED Registry, established by Dr. Andreas Zankl and Dr. Sheila Unger, provides a platform for patients, researchers, and advocacy organizations to share information and learn from each other. Additional information about OSMED can be found in scientific articles and the Online Mendelian Inheritance in Man (OMIM) database.

References and additional information can be found on the OMIM website, PubMed, and the OSMED Registry.

Causes

Otospondylomegaepiphyseal dysplasia is caused by genetic mutations that affect the normal development and function of specific genes and tissues in the body.

Testing for otospondylomegaepiphyseal dysplasia can be carried out to identify the specific gene mutations associated with the condition. This testing may include genetic testing, molecular genetic testing, and other laboratory tests to examine the genes and tissues involved.

Currently, the exact frequency of otospondylomegaepiphyseal dysplasia is unknown, but it is considered a rare condition. Additionally, there may be an overlap of symptoms and genes with other related conditions.

Some known genes associated with otospondylomegaepiphyseal dysplasia include COL11A2 and COL2A1, which are involved in collagen production. These gene mutations can disrupt the normal structure and function of collagen in the body, leading to the characteristic features of the condition.

It is important for patients and their families to learn more about otospondylomegaepiphyseal dysplasia and the genetic causes to better understand the condition and make informed decisions about testing and treatment.

Advocacy organizations and patient support groups can provide valuable resources and information about otospondylomegaepiphyseal dysplasia. These organizations may offer support, educational materials, and guidance for individuals and families affected by the condition.

Additional information and scientific articles about otospondylomegaepiphyseal dysplasia can be found in various scientific databases and resources such as OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and Genet (a genetic information resource).

In summary, otospondylomegaepiphyseal dysplasia is a rare genetic condition caused by mutations in specific genes. Testing and genetic analysis can help identify the specific gene mutations associated with the condition. Patient support groups and scientific resources can provide additional information and support for individuals and families affected by otospondylomegaepiphyseal dysplasia.

Learn more about the gene associated with Otospondylomegaepiphyseal dysplasia

Otospondylomegaepiphyseal dysplasia is a rare genetic condition that affects various tissues in the body, causing a range of symptoms and conditions. It is associated with mutations in the COL11A2 gene.

The COL11A2 gene provides instructions for making a protein called type XI collagen. This protein is important for the development and maintenance of various tissues, including cartilage, the inner ear, and other connective tissues. Mutations in the COL11A2 gene can disrupt the structure and function of type XI collagen, leading to the signs and symptoms of Otospondylomegaepiphyseal dysplasia.

Understanding the specific gene associated with this condition is important for several reasons. First, it helps healthcare providers and researchers better understand the underlying causes of the disease. Second, it allows for more accurate and targeted testing for diagnosis. Third, it can provide insight into potential treatments or interventions that may be effective for managing the condition.

There are several resources available for learning more about the COL11A2 gene and its association with Otospondylomegaepiphyseal dysplasia. The following are some recommended sources:

• OMIM: The Online Mendelian Inheritance in Man database provides comprehensive information on genetic conditions, including Otospondylomegaepiphyseal dysplasia and the associated COL11A2 gene.
• Genetics Home Reference: This resource provides easy-to-understand information about genetic conditions and the genes associated with them. The page on Otospondylomegaepiphyseal dysplasia includes an overview of the condition and its genetic causes.
• PubMed: PubMed is a vast database of scientific articles, including studies related to Otospondylomegaepiphyseal dysplasia and the COL11A2 gene. It can be a valuable tool for finding additional research and information.
• Otospondylomegaepiphyseal dysplasia registry: Some rare disease advocacy groups or research centers may maintain registries specific to this condition. These registries can provide additional information and resources, as well as opportunities to participate in research or connect with other patients.

It is important to note that while the COL11A2 gene is associated with Otospondylomegaepiphyseal dysplasia, there may be additional genes or factors involved in the development and progression of the condition. Ongoing research is needed to further understand the complex interactions between genes and other factors in this rare disease.

Inheritance

Otospondylomegaepiphyseal dysplasia (OSMED) is a rare genetic condition that belongs to a group of diseases known as collagen dysplasias. OSMED has a unique set of symptoms that overlap with other genetic conditions, making it challenging to diagnose and understand.

The inheritance pattern of OSMED is autosomal recessive, meaning that both parents must carry a copy of the mutated gene for their child to be affected. If both parents are carriers, there is a 25% chance of having an affected child with each pregnancy.

Genetic testing is the primary method for determining the specific gene mutations associated with OSMED. Additional testing may be done to learn more about the condition’s genetic causes and to provide further support and resources for patients and families affected by OSMED.

Scientific articles and references from reputable sources such as PubMed and OMIM (Online Mendelian Inheritance in Man) provide valuable information about the inheritance patterns, frequency, and associated genes involved in OSMED and related conditions.

The advocacy center and patient registry for OSMED and related conditions can also provide valuable support and information to patients and families. This includes resources such as articles, educational materials, and a catalog of genes and conditions associated with OSMED.

Research in the field of genetics, specifically OSMED and collagen dysplasias, is ongoing, and new information continues to emerge. The collaboration between scientists, advocacy groups, and patients is crucial for advancing our knowledge and understanding of the inheritance, genetic causes, and treatment options for OSMED and related conditions.

Other Names for This Condition

• Otospondylomegaepiphyseal dysplasia
• OMS
• Otospondylomegaepiphyseal dysplasia spectrum disorder
• OSMED
• Dysplasia, otospondylomegaepiphyseal

Otospondylomegaepiphyseal dysplasia, also known as OMS, is a rare genetic condition. It is associated with mutations in various genes that play a role in the formation of collagen, a protein found in many tissues throughout the body. In each patient, the specific genes involved and the frequency of the condition may vary. OMS is often characterized by a range of overlapping symptoms that can affect the ears, nose, and skeletal system.

There is limited scientific information available about this condition. However, resources such as the Online Mendelian Inheritance in Man (OMIM) database and PubMed can provide additional information and references to articles and genetic testing centers. Patients and their families may also find support and advocacy through patient advocacy groups or disease-specific registries.

Additional Information Resources

Below is a list of additional resources that may provide more information about otospondylomegaepiphyseal dysplasia and related conditions:

• Online Resources:
• Online Mendelian Inheritance in Man (OMIM): This database provides comprehensive information on genes, genetic conditions, and their associated symptoms. You can search for specific genes or conditions related to otospondylomegaepiphyseal dysplasia.
• PubMed: A scientific research database that contains thousands of articles on genetic conditions. You can search for scientific articles related to otospondylomegaepiphyseal dysplasia.
• National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization for rare diseases. Their website contains information about otospondylomegaepiphyseal dysplasia, including resources for support and learning about the condition.
• Genetic Testing:
• GeneTests: GeneTests is a resource that provides information on genetic testing laboratories and the specific tests they offer for various genetic conditions. You can search for laboratories that offer genetic testing for otospondylomegaepiphyseal dysplasia.
• Patient Registries:
• Genetic and Rare Diseases (GARD) Information Center: GARD is a catalog of rare diseases and related resources, including patient registries. You can search for otospondylomegaepiphyseal dysplasia patient registries to learn about other individuals with this condition.
• Books and Articles:
• Otospondylomegaepiphyseal Dysplasia by Brunner et al.: This book provides a comprehensive overview of otospondylomegaepiphyseal dysplasia, including information on its causes, inheritance patterns, and associated symptoms.
• Otospondylomegaepiphyseal Dysplasia: A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by ICON Health Publications: This book contains a collection of articles and references related to otospondylomegaepiphyseal dysplasia, giving further insights into the condition.

Genetic Testing Information

Genetic testing is a vital tool for diagnosing otospondylomegaepiphyseal dysplasia (OSMED). It involves analyzing the patient’s genes to identify specific genetic mutations or variations that may be causing the condition.

OSMED is a rare genetic disorder that affects the development of bones and other tissues in the body. It is caused by mutations in the COL11A2 gene, which provides instructions for making a protein called collagen. Collagen is a crucial component of connective tissues, including those found in bones, cartilage, and the nose.

Genetic testing can help identify the specific gene mutation causing OSMED in each patient. This information is important for understanding the underlying cause of the condition and aiding in the development of targeted treatments.

There are several types of genetic testing that may be used to diagnose OSMED. These include:

• Gene sequencing: This method involves sequencing the DNA of the patient to identify any variations or mutations in the COL11A2 gene.
• Collagen analysis: In some cases, testing may involve analyzing the collagen produced by the patient’s cells to identify any abnormalities.
• Family studies: Genetic testing can also be used to determine if other family members carry the same gene mutations, which can help with genetic counseling and family planning.

It’s important to note that genetic testing may not always provide a definitive diagnosis for OSMED. Some patients may have mutations in genes other than COL11A2 that cause similar conditions with overlapping symptoms. In these cases, additional genetic testing may be necessary to pinpoint the exact genetic cause of the patient’s condition.

If you or someone you know has been diagnosed with OSMED or a related condition, there are several resources available to assist you. The Brunner Center for Rare Diseases is a renowned center specializing in the diagnosis and treatment of rare genetic diseases. Additionally, the OSMED Registry can provide valuable information on the condition, including scientific articles, patient support groups, and advocacy resources.

For more information on the genetic causes, symptoms, and inheritance patterns of OSMED, you can refer to the Online Mendelian Inheritance in Man (OMIM) catalog. This comprehensive database provides detailed information on rare genetic diseases and their associated genes.

References:

• PubMed – A valuable resource for accessing scientific articles on OSMED and other rare genetic conditions.
• OMIM – Online Mendelian Inheritance in Man catalog provides detailed information on the genes associated with OSMED.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides information and resources about genetic and rare diseases to patients, their families, healthcare professionals, and the public.

One of the conditions that GARD provides information on is Otospondylomegaepiphyseal dysplasia. This rare genetic condition affects the growth and development of the bones and tissues in the body. It is characterized by short stature, hearing loss, and skeletal abnormalities.

The GARD website provides articles and other resources about Otospondylomegaepiphyseal dysplasia, which can be found by searching the PubMed database for scientific articles and references. These articles provide information about the condition, associated genes, inheritance patterns, and testing options available for patients.

Additionally, GARD provides information on the overlap and overlap of Otospondylomegaepiphyseal dysplasia with other rare genetic conditions. This information can help patients and healthcare professionals better understand the condition and its potential effects on the body.

GARD also provides information about other names associated with Otospondylomegaepiphyseal dysplasia, which can help individuals find additional resources and support.

The GARD website offers a variety of resources for individuals seeking information on rare genetic diseases. These resources include a rare disease registry, patient advocacy groups, and genetic testing centers. These resources can provide support, information, and guidance to individuals affected by Otospondylomegaepiphyseal dysplasia and other rare genetic conditions.

Visit the GARD website to learn more about Otospondylomegaepiphyseal dysplasia and other rare genetic diseases.

Patient Support and Advocacy Resources

Patients and families affected by Otospondylomegaepiphyseal dysplasia can find support and information through various resources. These resources offer assistance and advocacy for individuals living with this condition and their loved ones.

Genetic Support and Testing

• OMIM – The Online Mendelian Inheritance in Man (OMIM) database offers detailed information about the condition, including its causes, associated genes, and inheritance patterns.
• Genetic Testing – Genetic testing can help confirm a diagnosis of Otospondylomegaepiphyseal dysplasia and identify any associated genes.

Patient Support Groups

• Rare Diseases – Many rare disease organizations provide information and resources for individuals with Otospondylomegaepiphyseal dysplasia.
• Collagen Disorders – Otospondylomegaepiphyseal dysplasia is one of several collagen-related conditions. Patients can find support and information through organizations dedicated to collagen disorders.

Advocacy Organizations

• The National Organization for Rare Disorders (NORD) – NORD is a patient advocacy organization focused on rare diseases. They offer educational resources, support services, and advocacy initiatives for individuals living with rare conditions.
• The Genetic and Rare Diseases Information Center (GARD) – GARD provides information and support for individuals and families affected by rare genetic disorders, including Otospondylomegaepiphyseal dysplasia.

Scientific Publications and Research

• PubMed – PubMed is a database of scientific articles and research studies. Patients and families can access relevant publications to learn more about the condition and its management.
• Scientific Journals – Journals such as the American Journal of Medical Genetics and the Journal of Medical Genetics often publish articles on Otospondylomegaepiphyseal dysplasia and related conditions.

Patient Registries and Research Studies

• The International Skeletal Dysplasia Registry – This registry collects data on various skeletal dysplasias, including Otospondylomegaepiphyseal dysplasia. It serves as a valuable resource for researchers and patients.
• The Genetic Testing Registry – The Genetic Testing Registry provides information on genetic testing, including available tests for Otospondylomegaepiphyseal dysplasia.

By utilizing these resources, patients and families affected by Otospondylomegaepiphyseal dysplasia can access important information, support, and advocacy to better understand and manage the condition.

Catalog of Genes and Diseases from OMIM

Otospondylomegaepiphyseal dysplasia is a rare genetic condition that affects the body’s collagen, causing abnormalities in various tissues. The condition is associated with mutations in the OTOS gene, which plays a role in the development of the middle ear and other structures.

OMIM, the Online Mendelian Inheritance in Man, provides a comprehensive catalog of genes and diseases. This catalog includes information on the genetic causes, inheritance patterns, associated symptoms, and frequency of each condition.

For more scientific articles on otospondylomegaepiphyseal dysplasia and other related diseases, you can refer to the PubMed database. PubMed contains a vast collection of articles and research papers related to genetics and rare diseases.

OMIM also provides additional resources for patients and advocacy groups. You can learn more about otospondylomegaepiphyseal dysplasia and other rare diseases by visiting the OMIM website. The website includes articles, patient registries, and genetic testing information.

In addition, the Collagen Diagnostic Center at the University Medical Center Groningen in the Netherlands offers genetic testing for otospondylomegaepiphyseal dysplasia and other collagen-related conditions. Testing can help confirm a diagnosis and provide information about the specific mutations involved.

Overall, the OMIM catalog is a valuable resource for researchers, healthcare professionals, and individuals seeking information about genetic diseases. It provides a comprehensive overview of genes and the associated conditions they cause, helping to advance our understanding of rare disorders.

Scientific Articles on PubMed

• Otospondylomegaepiphyseal dysplasia is a rare genetic condition that affects the growth and development of the bones in the body.
• Patients with this condition may have learning difficulties and associated nose and ear problems.
• Research has identified specific genes that are responsible for causing otospondylomegaepiphyseal dysplasia.
• PubMed is a valuable resource for accessing scientific articles about this rare condition.
• These articles provide more information on the causes, inheritance patterns, and testing methods for otospondylomegaepiphyseal dysplasia.
• Scientific articles on PubMed also support the overlap of symptoms and conditions associated with otospondylomegaepiphyseal dysplasia.
• Additional resources, such as patient registries and advocacy organizations, can be found through PubMed to learn more about this rare condition.
• Collagen is a key component of the body’s tissues and genetic mutations in collagen genes have been linked to otospondylomegaepiphyseal dysplasia.
• The frequency of this condition can vary from center to center, and more research is needed to fully understand its frequency in the population.
• Genetic testing is available to confirm a diagnosis of otospondylomegaepiphyseal dysplasia and to identify the specific genes involved.
• OMIM and Genet are other references that can provide further information on this rare condition.
• Brunner syndrome is an overlapping condition with similarities to otospondylomegaepiphyseal dysplasia.

References and Resources

PubMed	OMIM	Genet
Scientific articles on otospondylomegaepiphyseal dysplasia	Additional information on the condition and associated genes	References and resources for learning more about otospondylomegaepiphyseal dysplasia

References

• Causes of otospondylomegaepiphyseal dysplasia: genetic mutations affecting collagen genes.
• Diseases with overlapping features: otospondylomegaepiphyseal dysplasia and other rare skeletal conditions.
• The frequency and inheritance of otospondylomegaepiphyseal dysplasia in the general population.
• Advocacy centers and support resources for patients with otospondylomegaepiphyseal dysplasia.
• Genetic testing and information on otospondylomegaepiphyseal dysplasia.
• Nose abnormalities and other physical features associated with otospondylomegaepiphyseal dysplasia.
• Brunner syndrome and other genetic disorders with similar features to otospondylomegaepiphyseal dysplasia.
• Resources for learning more about otospondylomegaepiphyseal dysplasia, including articles and scientific publications.
• Testing for specific genes associated with otospondylomegaepiphyseal dysplasia.
• Additional information on rare skeletal conditions in the OMIM catalog.
• Otospondylomegaepiphyseal dysplasia patient registry.
• Overlap of otospondylomegaepiphyseal dysplasia with other collagen-associated disorders.
• Genetic testing and inheritance patterns of otospondylomegaepiphyseal dysplasia.
• Resources for genetic counseling and support for patients and families with otospondylomegaepiphyseal dysplasia.
• PubMed articles on otospondylomegaepiphyseal dysplasia and related rare conditions.