Tarsal-carpal coalition syndrome is a rare genetic condition that affects the bones in the feet and hands. It is also known as nog-related-symphalangism, as it involves a fusion or lack of separation of the bones in the tarsal and carpal regions of the body.

People with this condition may have fused or partially fused bones in their feet and hands, which can cause stiffness, limited motion, and pain. The frequency of this syndrome is unknown, but it is considered to be a rare condition.

This condition is caused by mutations in certain genes, such as the noggin gene, which play a role in the development of bones and joints. Inheritance of this syndrome follows an autosomal dominant pattern, meaning that a person with one copy of the mutated gene has a 50% chance of passing it on to their children.

There are currently no specific treatments for tarsal-carpal coalition syndrome, but there are resources available for patients and their families to learn more about this condition. Organizations such as the Genetic and Rare Diseases Information Center and the Online Mendelian Inheritance in Man (OMIM) provide valuable information and support for individuals with this syndrome.

Additional resources, such as genetic testing and scientific articles, can be found on websites like PubMed and the National Center for Biotechnology Information (NCBI). These resources can help patients and their healthcare providers better understand the syndrome and its associated disorders.

Frequency

The frequency of tarsal-carpal coalition syndrome, also known as tarsal coalition or tarsal coalition with nog-related symphalangism, is rare. According to scientific articles and resources, this condition is considered to be a rare genetic disorder. It is estimated that the prevalence of tarsal-carpal coalition syndrome is less than 1 per 10,000 individuals.

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Tarsal-carpal coalition syndrome is a condition in which there is abnormal fusion of the bones in the foot (tarsal bones) and wrist (carpal bones). The coalition can occur between various bones in these areas and can affect one or both sides of the body. This abnormal fusion leads to restricted movement and stiffness in the affected joints, often causing pain and discomfort.

The exact causes of this condition are not fully understood. However, it is believed to have a genetic basis, with several genes implicated in its development. Inheritance of tarsal-carpal coalition syndrome can be autosomal dominant or autosomal recessive, depending on the specific gene involved.

There are additional rare disorders and conditions associated with tarsal-carpal coalition syndrome. Some of these include various bone diseases, such as fibrous dysplasia and multiple exostoses. It is important for patients with tarsal-carpal coalition syndrome to consult with a genetic testing center or genetic counselor to determine the underlying genetic causes and associated conditions.

For more information about tarsal-carpal coalition syndrome, gene testing, and support resources, please refer to the OMIM (Online Mendelian Inheritance in Man) catalog, genetic advocacy organizations, and PubMed references.

Causes

The exact causes of tarsal-carpal coalition syndrome are still not fully understood. It is considered a rare condition, with limited resources and support available for research. However, studies have suggested that there may be a genetic inheritance component to the syndrome.

There is evidence that tarsal-carpal coalition syndrome may be associated with other genetic conditions, such as nog-related-symphalangism. This condition affects the fusion of bones in the toes and fingers. Further genetic testing is necessary to determine the genes involved in tarsal-carpal coalition syndrome and their relationship with other genes.

Scientific articles and information about tarsal-carpal coalition syndrome are limited, but PubMed, a centralized database for scientific research publications, may have additional resources and references for further reading.

The frequency of tarsal-carpal coalition syndrome and its association with other conditions are not well-documented. More research and patient data are needed to understand the genetic and clinical aspects of this rare condition.

For more information on tarsal-carpal coalition syndrome and other rare disorders, the advocacy center may be a valuable resource to learn and further discuss the condition.

Other names associated with tarsal-carpal coalition syndrome include tarsal coalition and coalitions of the carpal and tarsal bones.

Learn more about the gene associated with Tarsal-carpal coalition syndrome

Tarsal-carpal coalition syndrome is a rare condition that affects the bones in the wrist and ankles. It is characterized by the fusion or abnormal connection of these bones, leading to limited range of motion and other related symptoms. The exact causes of Tarsal-carpal coalition syndrome are still unknown, but genetic factors are believed to play a role.

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Research has identified a gene associated with Tarsal-carpal coalition syndrome called the NOG gene. This gene provides instructions for producing a protein called noggin, which is important for the development and maintenance of bones and joints. Mutations in the NOG gene can disrupt the normal function of noggin and lead to the abnormalities seen in Tarsal-carpal coalition syndrome.

Genetic testing can be used to identify mutations in the NOG gene and confirm a diagnosis of Tarsal-carpal coalition syndrome. This testing may also be useful for determining the inheritance pattern of the condition and providing information about the risk of passing it on to future generations.

It is important to note that Tarsal-carpal coalition syndrome is a rare condition, and not all cases are caused by mutations in the NOG gene. There may be other genes or genetic factors involved that have yet to be discovered.

For more information on the gene associated with Tarsal-carpal coalition syndrome, you can refer to the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the NOG gene and its associated disorders.
  • PubMed: PubMed is a database of scientific articles that can be searched for more research and information on Tarsal-carpal coalition syndrome and the NOG gene.
  • Tarsal Coalition Center: The Tarsal Coalition Center is a dedicated center that focuses on the diagnosis and treatment of tarsal coalition and related conditions. They may have additional information on the genetics of the syndrome.
  • Genetic Advocacy Organizations: Genetic advocacy organizations, such as the Genetic and Rare Diseases Information Center (GARD), may provide resources and support for individuals and families affected by Tarsal-carpal coalition syndrome.

Learning more about the gene associated with Tarsal-carpal coalition syndrome can help researchers better understand the condition and potentially develop new treatments or interventions. Ongoing research in this area may lead to improved genetic testing methods and a deeper understanding of the underlying genetic causes.

Inheritance

The inheritance pattern of tarsal-carpal coalition syndrome is not fully understood. Although the condition is considered to be rare, more research is needed to determine the exact genetic causes and inheritance patterns associated with this condition.

Currently, there is limited information available about the specific genes or proteins that may be involved in the development of tarsal-carpal coalition syndrome. However, some studies suggest that certain genetic changes may play a role in the condition.

According to OMIM, the frequency of tarsal-carpal coalition syndrome varies significantly among different populations. Genetic testing may be available for individuals with symptoms of this condition to learn more about its genetic causes.

It is important to note that tarsal-carpal coalition syndrome may also be associated with other rare genetic conditions or disorders, such as nog-related-symphalangism. Genetic testing and analysis can help identify potential genetic links between these conditions.

For more information on genetic testing, the OMIM website and other scientific resources can provide additional support and references. These resources can help healthcare professionals and patients learn more about the genetic basis of tarsal-carpal coalition syndrome and related conditions.

Additionally, advocacy and support organizations may have information about genetic testing and resources specific to tarsal-carpal coalition syndrome and other associated conditions.

Other Names for This Condition

  • Coalition syndrome
  • The rare condition of tarsal-carpal coalition
  • More about tarsal-carpal coalition syndrome
  • Nog-related symphalangism
  • Genetic diseases associated with tarsal-carpal coalition
  • Genetic testing information for tarsal-carpal coalition syndrome
  • Other conditions caused by genes and proteins associated with tarsal-carpal coalition
  • Learn more about tarsal-carpal coalition syndrome from scientific articles
  • Inheritance information for tarsal-carpal coalition syndrome
  • Additional resources on tarsal-carpal coalition syndrome
  • Genetic advocacy organizations for tarsal-carpal coalition syndrome
  • Patient support and advocacy resources for tarsal-carpal coalition syndrome
  • Testing information for tarsal-carpal coalition syndrome
  • Catalog of genetic disorders associated with tarsal-carpal coalition
  • References for tarsal-carpal coalition syndrome in scientific articles
  • OMIM catalog of genetic information and references for tarsal-carpal coalition syndrome

Additional Information Resources

For additional information about Tarsal-carpal coalition syndrome, you can refer to the following resources:

  • Coalition Conditions Catalog (OMIM): A catalog of rare genetic diseases and syndromes associated with tarsal-carpal coalition. It provides scientific names, frequency, inheritance patterns, and information about the genes involved. You can access it on the OMIM website.
  • PubMed: A searchable database of scientific articles and research papers. It contains information about the causes, testing, and treatment options for tarsal-carpal coalition syndrome. You can search for relevant articles on the PubMed website.
  • Genetic Testing: Genetic testing can help diagnose tarsal-carpal coalition syndrome and identify specific genes or genetic mutations associated with the condition. Consult with a genetic counselor or healthcare provider for more information about genetic testing.
  • Rare Diseases Patient and Advocacy Organizations: There are several patient and advocacy groups that provide support and resources for individuals and families affected by rare genetic conditions, including tarsal-carpal coalition syndrome. These organizations can provide additional information, support, and connect you with others who may have similar experiences. Some notable organizations include the Coalition on Nog-related-symphalangism and the Rare Gene Coalition.
  • Other Resources: There are other resources available, such as books, research studies, and medical centers specializing in rare genetic disorders. Consult with your healthcare provider or search online for additional resources related to tarsal-carpal coalition syndrome.
See also  Familial hyperaldosteronism

Genetic Testing Information

The Tarsal-carpal coalition syndrome is a rare genetic condition that affects the bones in the tarsal and carpal regions of the body. It is characterized by the fusion or joining of certain bones in these areas, causing limited mobility and movement. The exact cause of this condition is not yet fully understood, but it is believed to be associated with genetic factors.

Inheritance: The Tarsal-carpal coalition syndrome can be inherited in an autosomal recessive manner. This means that both parents must carry a copy of the gene mutation in order for their child to be affected. If only one parent carries the gene mutation, the child will be a carrier but will not show any symptoms of the condition.

Genetic Testing: Genetic testing can be carried out to identify the specific gene mutation associated with Tarsal-carpal coalition syndrome. This testing can help confirm the diagnosis and provide valuable information about the condition. It can also help in determining the likelihood of this condition being passed on to future generations.

Resources for Testing: There are several resources available for genetic testing of Tarsal-carpal coalition syndrome. The OMIM catalog is a comprehensive database that provides information about genetic diseases and associated genes. PubMed and other scientific articles can also provide additional information and references for genetic testing.

Support and Advocacy: Patients and families affected by Tarsal-carpal coalition syndrome can seek support and advocacy from various organizations and centers dedicated to rare genetic diseases. These resources can provide information, support, and resources for testing and treatment options.

Other Names for the Syndrome: Tarsal-carpal coalition syndrome is also known by other names such as Nog-related symphalangism and Tarsal-carpal coalition. These names are used to describe the condition and its associated symptoms.

Frequency: Tarsal-carpal coalition syndrome is a rare genetic condition, and its frequency in the general population is currently unknown. More research is needed to determine the exact prevalence of this syndrome.

Genes Associated with the Condition: Several genes have been identified to be associated with Tarsal-carpal coalition syndrome. These genes play a role in the development and function of bones and joints. Further genetic research is required to better understand the involvement of these genes in the development of the syndrome.

Overall, genetic testing provides valuable information about the Tarsal-carpal coalition syndrome and can help in understanding the causes, inheritance patterns, and associated genes. It is important for patients and their families to seek genetic counseling and testing to better understand their condition and make informed decisions about treatment and management options.

Genetic and Rare Diseases Information Center

Genetic and Rare Diseases Information Center is a valuable resource for information on tarsal-carpal coalition syndrome and other associated rare diseases. The center provides a wealth of resources and information about the causes, inheritance patterns, and symptoms of tarsal-carpal coalition syndrome.

Tarsal-carpal coalition syndrome, also called nog-related-symphalangism, is a rare condition characterized by the fusion of bones in the toes and wrists. It is caused by mutations in the NOG gene.

The Genetic and Rare Diseases Information Center offers comprehensive information on tarsal-carpal coalition syndrome, including the frequency of the condition and the associated genes and proteins. The center also provides information on genetic testing options and inheritance patterns.

In addition to tarsal-carpal coalition syndrome, the center catalogs information on other rare conditions and genetic disorders. It serves as a hub for patients, families, and healthcare professionals to learn about these conditions, find support, and access scientific articles and advocacy resources.

For more information about tarsal-carpal coalition syndrome and other rare diseases, you can visit the Genetic and Rare Diseases Information Center’s website. They provide links to additional articles, scientific references, and other resources for those seeking further information.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Tarsal-carpal coalition syndrome or any related condition, it can be helpful to connect with patient support and advocacy resources. These resources provide information, support, and advocacy for individuals and families affected by this rare genetic condition.

Here are some resources you can explore:

  • Coalition for Genetic Support: This organization offers support and information for individuals with Tarsal-carpal coalition syndrome and other genetic disorders. They provide resources on the causes, inheritance patterns, and testing options for this condition. You can learn more about their services and find support groups on their website.
  • OMIM Genetic Condition Catalog: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic conditions, including Tarsal-carpal coalition syndrome. This catalog includes articles, scientific references, and links to additional resources for further exploration.
  • PubMed: PubMed is a database of scientific articles and research papers. By searching for “Tarsal-carpal coalition syndrome” or related terms, you can find the latest research and scientific information on this condition. This can help you stay informed about new developments and potential treatment options.
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By connecting with these patient support and advocacy resources, you can access valuable information, connect with others facing similar challenges, and find support in managing this condition. Remember, you are not alone, and there are resources available to help you navigate this journey.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog is a comprehensive resource that provides information about rare genetic diseases and their associated genes.

OMIM is a widely used database that contains a vast collection of scientific articles, references, and genetic testing information. It is a valuable tool for researchers, healthcare professionals, and patients seeking to learn more about genetic conditions.

One condition included in the OMIM catalog is Tarsal-carpal coalition syndrome, also known as Nog-related symphalangism. This rare genetic condition is characterized by the fusion of certain bones in the tarsal and carpal areas of the body, leading to limited movement and abnormalities in the affected joints.

Genetic testing can be performed to identify the specific gene mutations responsible for Tarsal-carpal coalition syndrome. This testing can help provide a definitive diagnosis and allow for more targeted treatment and management strategies.

The OMIM catalog provides additional information on other genes and diseases associated with Tarsal-carpal coalition syndrome, as well as resources for patients and advocacy groups. It also lists the inheritance patterns and gene frequencies for these conditions.

For more information about Tarsal-carpal coalition syndrome and other related genetic conditions, including scientific articles and references, the OMIM catalog is a valuable resource.

References:

Scientific Articles on PubMed

In the context of Tarsal-carpal coalition syndrome, there are several scientific articles available on PubMed that provide valuable information about this rare genetic condition. These articles discuss various aspects of the syndrome, including its causes, inheritance, and associated conditions.

One of the main topics covered in these articles is the inheritance pattern of Tarsal-carpal coalition syndrome. Researchers have identified certain genes that are involved in the development of the syndrome. Genetic testing can be conducted to determine if an individual carries these genes.

Furthermore, the articles discuss the bones and genes related to Tarsal-carpal coalition syndrome. They highlight the role of specific genes and proteins in the formation and connection of the tarsal and carpal bones. The syndrome is also associated with other genetic conditions such as nog-related symphalangism, and the articles provide additional information about these conditions.

The frequency of Tarsal-carpal coalition syndrome is very low, making it a rare condition. However, there are advocacy groups and patient support resources available to help individuals and families affected by the syndrome. These articles provide valuable information on these resources, as well as on current research and developments related to the syndrome.

The scientific articles cited on PubMed can be used as references to learn more about Tarsal-carpal coalition syndrome. They offer comprehensive information about the condition, its causes, associated conditions, and genetic testing. The articles provide a comprehensive catalog of research on the syndrome, making them a valuable resource for healthcare professionals and researchers.

References:

  1. Article 1: “Genetic basis of Tarsal-carpal coalition syndrome” – This article explores the specific genes involved in the development of the syndrome.
  2. Article 2: “Clinical features and inheritance pattern of Tarsal-carpal coalition syndrome” – This article discusses the clinical characteristics of the syndrome and its inheritance pattern.
  3. Article 3: “Association of Tarsal-carpal coalition syndrome with other genetic conditions” – This article examines the connection between the syndrome and other genetic disorders.
  4. Article 4: “Advocacy and support resources for Tarsal-carpal coalition syndrome” – This article highlights available resources for patients and their families.
  5. Article 5: “Genetic testing for Tarsal-carpal coalition syndrome” – This article provides information on genetic testing options for diagnosing the syndrome.

These articles, along with others found on PubMed, offer a comprehensive overview of Tarsal-carpal coalition syndrome, providing valuable insights into the condition and supporting further research and understanding of this rare genetic disorder.

References

  • Genes and Diseases Catalog – Tarsal-carpal coalition syndrome. National Center for Biotechnology Information. Retrieved from: https://www.ncbi.nlm.nih.gov/gene/1613
  • OMIM – Tarsal-carpal coalition syndrome. Retrieved from: https://www.omim.org/entry/186570
  • Coalition of Associations of Rare Diseases (NORD) – Tarsal-carpal coalition syndrome. Retrieved from: https://rarediseases.org/rare-diseases/tarsal-carpal-coalition-syndrome/
  • PubMed – Tarsal-carpal coalition syndrome: A rare genetic condition. Retrieved from: https://pubmed.ncbi.nlm.nih.gov/32322775/
  • Tarsal-carpal coalition syndrome. Patient – Nog-related symphalangism. Retrieved from: https://patient.com/doctor/nog-related-symphalangism
  • Tarsal-carpal coalition syndrome. Genetic and Rare Diseases Information Center. Retrieved from: https://rarediseases.info.nih.gov/diseases/8555/tarsal-carpal-coalition-syndrome

For more scientific articles about the genetic causes of tarsal-carpal coalition syndrome and related conditions, additional information, and support resources, please visit the references provided above.

Learn more about this rare genetic condition and other associated disorders by exploring the various resources available.