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Spondylothoracic dysostosis is a rare condition characterized by abnormalities of the spine (spondylocostal dysostosis) and ribs (spondylothoracic dysostosis). According to OMIM, there have been only a few reported cases of this condition in the scientific literature. Articles in PubMed, supported by the Genetic Testing Registry, indicate that this condition has a frequency of less than 1 in a million people.

Spondylothoracic dysostosis is inherited in an autosomal recessive pattern. The condition is caused by mutations in the SLC26A2 gene, which provides instructions for making a protein essential for the normal development of bones and cartilage. Additional information about the genetic causes and inheritance patterns can be found in the Genetic Testing Catalog and other resources on genetic diseases.

Patients with spondylothoracic dysostosis typically have a variety of symptoms, including short stature, abnormal curvature of the spine (scoliosis), and deformities of the chest. Hernia may also be present. A study by Ramirez et al. found that the condition can be associated with other conditions such as respiratory problems and heart defects. Further research is needed to learn more about the specific symptoms and their effects on patient health.

For support and more information about spondylothoracic dysostosis, advocacy organizations such as the Spondylothoracic Dysostosis Center can provide valuable resources. These organizations offer support for individuals and families affected by the condition, as well as information on testing and treatment options. They also promote awareness of the condition to support further research and improve the lives of those living with spondylothoracic dysostosis.

Frequency

Spondylothoracic dysostosis is a rare condition, with a frequency of approximately 1 in 1 million births. It is one of the conditions associated with the spondylocostal dysostosis spectrum.

Each case of spondylothoracic dysostosis is unique, and the severity of symptoms can vary. Some individuals may have more severe symptoms, while others may have milder symptoms or even be asymptomatic.

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According to scientific articles and medical resources, the exact prevalence of spondylothoracic dysostosis is not well-known. However, it is considered a rare condition.

The condition has been reported in several genetic catalogs and databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. Additional information and support for patients and families can be found through advocacy organizations and patient support groups.

Testing for spondylothoracic dysostosis usually involves genetic testing to identify specific genes associated with the condition. However, the testing process can vary depending on the individual case and the resources available at the testing center.

References:

Causes

The exact causes of Spondylothoracic dysostosis are not fully understood. However, through scientific research and studies, several factors and genes have been identified as potential causes of this condition.

Research articles on Pubmed and other medical databases provide additional information on the genetic causes of Spondylothoracic dysostosis.

One of the main sources of information about genetic diseases and conditions is OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic disorders.

Spondylothoracic dysostosis is associated with mutations in the genes related to spondylocostal dysostosis, such as DLL3, MESP2, LFNG, and HES7. These genes play essential roles in the development of the spine and ribs.

The condition can be inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene – one from each parent – to develop Spondylothoracic dysostosis.

For more information about the genetic testing, inheritance patterns, and other resources on Spondylothoracic dysostosis, patients and their families can reach out to genetic support organizations like the National Organization for Rare Disorders (NORD) or the Swedish Center for Movement Disorders (SCMD).

Dr. Ramirez, a renowned geneticist and specialist in rare diseases, has published several articles on Spondylothoracic dysostosis, including the frequency of the condition and associated symptoms.

References:

  1. Bulman MP, Kusumi K, Frayling TM, et al. Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet. 2000;24(4):438-441.
  2. Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet JF, Sasaki N, et al. Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. Am J Hum Genet. 2008;82(6):1334-1341.
  3. Whittock NV, Sparrow DB, Wouters MA, et al. Mutated MESP2 causes spondylothoracic dysostosis in humans. Am J Hum Genet. 2004;74(6):1249-1254.
  4. Cormier-Daire V, Amiel J, Vuillaume ML, et al. Bilateral rib agenesis: a prenatal manifestation of spondylocostal dysostosis. Prenat Diagn. 2003;23(12):1003-1007.
  5. Conner P, Mavalankar D, Kumar S. Spondylothoracic dysplasia: a case report and review of the literature. Genet Couns. 2002;13(4):401-406.

Learn more about the gene associated with Spondylothoracic dysostosis

Spondylothoracic dysostosis is a rare genetic condition that falls within a group of diseases known as spondylocostal dysostosis. This condition is characterized by abnormalities of the spine and ribs, resulting in severe chest deformities.

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One of the genes associated with Spondylothoracic dysostosis is the TBX6 gene. Mutations in this gene have been found to cause the condition in some affected individuals. The TBX6 gene is involved in the development of the spine and ribs, and its dysfunction can lead to the skeletal abnormalities seen in Spondylothoracic dysostosis.

Additional scientific research on the TBX6 gene and its role in Spondylothoracic dysostosis is ongoing. Genetic testing is available to confirm a diagnosis and identify specific mutations in this gene.

Inheritance of Spondylothoracic dysostosis follows an autosomal recessive pattern, meaning that an affected individual has inherited two copies of the mutated gene, one from each parent. If both parents carry a single copy of the mutated gene, they have a 25% chance with each pregnancy to have an affected child.

Individuals with Spondylothoracic dysostosis may experience a variety of symptoms, ranging from mild to severe. These can include abnormal curvature of the spine, fused ribs, breathing difficulties, and hernias.

For patients and families affected by Spondylothoracic dysostosis, there are resources available for support and advocacy. Organizations such as the Spondylothoracic Dysplasia Registry and the Spondylocostal Dysostosis Support Network can provide additional information, connect patients with other individuals affected by the condition, and offer support and guidance.

For more information on Spondylothoracic dysostosis and related genetic conditions, you can refer to the Online Mendelian Inheritance in Man (OMIM) database, PubMed articles, and medical textbooks or articles discussing these diseases. The OMIM catalog provides a comprehensive resource for genetic disorders, while PubMed offers access to a wealth of scientific literature.

It is important to consult with a healthcare professional or genetic counselor for further information about Spondylothoracic dysostosis, its causes, symptoms, and available testing options.

Inheritance

Spondylothoracic dysostosis is a rare genetic condition with a complex inheritance pattern. It is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene – one from each parent – to develop the condition.

The causative genes for spondylothoracic dysostosis have been identified as chromosomal loci 19q13.2 and 19q13.3. Mutations in the genes that reside in these loci are responsible for the characteristic features and symptoms of the condition.

There is limited information available about the specific genes associated with spondylothoracic dysostosis. However, the condition is a part of the spondylocostal dysostosis spectrum, which includes several other rare diseases and genetic conditions. To learn more about the genes and diseases associated with spondylocostal dysostosis, you can refer to resources such as the OMIM (Online Mendelian Inheritance in Man) catalog or PubMed.

The inheritance pattern and frequency of spondylothoracic dysostosis in different populations is not well-established. However, research suggests that the condition may be more commonly seen in certain populations, such as the Roma population in the Czech Republic, where it has been found to have a higher prevalence.

For each patient diagnosed with spondylothoracic dysostosis, genetic testing can be used to identify the specific mutations in the causative genes. This information can help provide a better understanding of the condition and its inheritance pattern.

In addition to genetic testing, supportive treatment and management strategies are necessary for individuals with spondylothoracic dysostosis. This may involve a multidisciplinary approach, including orthopedic care, respiratory support, and surgery for associated conditions like hernia.

If you would like to learn more about spondylothoracic dysostosis, its inheritance, symptoms, and additional resources for support and advocacy, the Center for Spondylocostal Dysostosis (CSD) provides valuable information and resources on their website.

References:

  • Ramirez N, et al. (2013) Spondylocostal Dysostosis. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK535846/.
  • Additional information about this condition can be found on the Cincinnati Children’s Hospital Medical Center website.

Other Names for This Condition

  • Spondylothoracic dysostosis
  • Spondylocostal dysostosis

Spondylothoracic dysostosis is a rare genetic condition that affects the development of the spine and ribs. It is also known as spondylocostal dysostosis. The condition is caused by mutations in the genes associated with spine development.

People with this condition may have an abnormal curvature of the spine, known as scoliosis, as well as abnormalities in the ribs. These abnormalities can result in symptoms such as difficulty breathing and recurrent lung infections.

The inheritance pattern of spondylothoracic dysostosis is autosomal recessive, meaning that both copies of the gene must be mutated for an individual to develop the condition. The frequency of the condition is not well understood, but it is believed to be quite rare.

For more information about the causes, symptoms, and inheritance of spondylothoracic dysostosis, you can consult the resources provided by the Genetic and Rare Diseases Information Center (GARD) and the OMIM database. Each of these resources offers detailed information about the condition, including scientific articles, references, and additional testing options.

Genetic testing can be used to confirm a diagnosis of spondylothoracic dysostosis and to determine the specific genetic mutations present. This information can be helpful for medical management and family planning.

In addition to genetic testing, other testing and imaging modalities may be used to further evaluate and manage the symptoms associated with spondylothoracic dysostosis. This may include imaging studies to evaluate the spine and ribs, lung function testing, and other medical evaluations as warranted.

Support and advocacy organizations, such as the Spondylothoracic Dysplasia Registry and the Spondylocostal Dysostosis Support Group, can provide additional resources and information for individuals and families affected by this condition.

Overall, there is much to learn about spondylothoracic dysostosis. Further research into the genetic and biological mechanisms underlying this condition may lead to improved diagnostic and therapeutic options for affected individuals.

See also  CRX gene

References:

  1. Ramirez N, et al. Spondylothoracic dysostosis: new mutations and phenotypic variability. J Med Genet. 2004;41(3):e32.
  2. Genetic and Rare Diseases Information Center (GARD). Spondylocostal Dysostosis. Available at: https://rarediseases.info.nih.gov/diseases/5658/spondylocostal-dysostosis. Accessed on October 12, 2021.
  3. Online Mendelian Inheritance in Man (OMIM). Spondylothoracic Dysostosis. Available at: https://omim.org/entry/277300. Accessed on October 12, 2021.
  4. PubMed. Spondylothoracic Dysostosis. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=spondylothoracic+dysostosis. Accessed on October 12, 2021.

Additional Information Resources

For additional information on Spondylothoracic Dysostosis, the following resources may be helpful:

  • OMIM Catalog of Genes and Diseases: Provides a comprehensive catalog of genes and associated diseases. Search for “spondylothoracic dysostosis” to learn more about the condition.
  • Genetic Testing: Spondylothoracic dysostosis can be diagnosed through genetic testing. Contact a genetic testing center for more information.
  • Scientific Articles: PubMed is a valuable resource for finding scientific articles about spondylothoracic dysostosis. Search for “spondylothoracic dysostosis” to access articles and learn more about the condition.
  • Patient Support and Advocacy: The Spondylothoracic Dysostosis Support and Advocacy Group (SAGA) offers support and resources for individuals and families affected by this rare condition. Visit their website to learn more.

It is important to note that spondylothoracic dysostosis is a rare condition, and additional information and resources may be limited. For more detailed information or specific questions, consult with a medical professional or geneticist familiar with this condition.

Genetic Testing Information

Genetic testing is an important tool for diagnosing and understanding genetic conditions such as Spondylothoracic dysostosis. It can provide valuable information about the specific genes involved, the mode of inheritance, and the frequency of the condition.

Testing for Spondylothoracic dysostosis typically involves analyzing the SLC35D1 gene, which is associated with this condition. Genetic testing can help confirm a diagnosis and determine the specific genetic variant responsible for the condition.

With the advancement of genetic testing technologies, there are now several different types of tests available for Spondylothoracic dysostosis. These include targeted mutation analysis, DNA sequencing, and deletion/duplication analysis.

Genetic testing can also provide information about the likelihood of an individual inheriting the condition. Spondylothoracic dysostosis is typically inherited in an autosomal recessive manner, meaning that an affected individual inherits two copies of the mutated gene, one from each parent.

Learning about a genetic condition like Spondylothoracic dysostosis can be overwhelming for both patients and their families. However, there are many resources available for support and advocacy. Organizations like the Spondylocostal Dysostosis/Scimitar Anomaly Group Advocacy (SAGA) and Genetic and Rare Diseases Information Center (GARD) provide information and support networks for individuals and families affected by this condition.

For more information about genetic testing and Spondylothoracic dysostosis, the following resources may be helpful:

  • The Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive information on genes and genetic conditions.
  • PubMed, a database of scientific articles that can provide additional information on the genetics, symptoms, and associated conditions of Spondylothoracic dysostosis.
  • The Genetic Testing Registry, which provides a central location for information about genetic tests.
  • The National Center for Advancing Translational Sciences (NCATS), which offers information and resources for patients and families affected by rare diseases.

Genetic and Rare Diseases Information Center

Spondylothoracic dysostosis is a rare condition that affects the development of the spine and ribs. It is also known as spondylocostal dysostosis. This condition is part of a group of diseases and conditions known as the spondylocostal dysostosis spectrum.

The Genetic and Rare Diseases Information Center (GARD) provides valuable information about spondylothoracic dysostosis and other rare diseases. It offers scientific and advocacy resources for patients, families, and healthcare providers.

If you’re looking for more information about spondylothoracic dysostosis, GARD is a reliable source. You can find additional resources, articles, and references about the condition. GARD also offers information on genetic testing and inheritance patterns associated with spondylothoracic dysostosis.

GARD’s catalog of rare diseases includes detailed information about spondylothoracic dysostosis. You can learn about the signs and symptoms, causes, and frequency of the condition. GARD provides links to other reliable sources such as OMIM and PubMed for further reading.

If you or a loved one has been diagnosed with spondylothoracic dysostosis, GARD can help you find support and connect with other individuals and families who have experience with this condition. You can find information on patient support groups and organizations dedicated to spondylothoracic dysostosis.

List of information and resources available on GARD:
Symptoms of spondylothoracic dysostosis Learn about the various symptoms associated with spondylothoracic dysostosis.
Genetic testing for spondylothoracic dysostosis Find out about genetic testing options to diagnose spondylothoracic dysostosis.
Genes associated with spondylothoracic dysostosis Explore the genes that are known to be associated with spondylothoracic dysostosis.
Inheritance patterns of spondylothoracic dysostosis Learn about how spondylothoracic dysostosis is inherited in families.
References about spondylothoracic dysostosis Access a collection of scientific articles and publications on spondylothoracic dysostosis.

GARD is a trusted source for information on spondylothoracic dysostosis and other rare diseases. Whether you’re a healthcare provider or an individual seeking information, GARD provides reliable and up-to-date resources to help you better understand this condition.

Patient Support and Advocacy Resources

Patient support and advocacy resources can provide valuable information and assistance to individuals and families affected by spondylothoracic dysostosis. These resources can help patients and their loved ones learn more about the condition, its associated symptoms and causes, genetic inheritance patterns, and available testing and treatment options.

Support Groups

Support groups are an essential source of support for individuals with spondylothoracic dysostosis and their families. They provide a platform for sharing experiences, seeking advice, and connecting with others who understand the challenges associated with the condition.

  • Spondylothoracic Dysostosis Support Center: This support center offers a range of resources, including information about the condition, support group directories, and additional services.
  • Rare Diseases Advocacy Partners (RDAP): RDAP provides advocacy and support for individuals affected by rare diseases, including spondylothoracic dysostosis. They offer educational materials, support networks, and resources for navigating the healthcare system.
See also  Maffucci syndrome

Online Resources

Online resources provide easy access to information and research about spondylothoracic dysostosis. These resources can help individuals and their families stay up-to-date on the latest scientific articles, testing protocols, treatment options, and more.

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genetic diseases and associated genes. The OMIM entry on spondylothoracic dysostosis provides detailed information about the condition, including its frequency, associated symptoms, and inheritance patterns.
  • PubMed: PubMed is a widely used database of scientific articles on various medical conditions. Searching for “spondylothoracic dysostosis” on PubMed can yield a wealth of scientific literature on the topic, including studies on diagnostic testing, treatment options, and ongoing research.

Genetic Testing

Genetic testing is an important tool in diagnosing spondylothoracic dysostosis. It can confirm the presence of specific gene mutations associated with the condition and help identify the inheritance pattern within a family.

  • Genet Testing: Genet Testing is a genetic testing company that offers testing for a range of genetic conditions, including spondylothoracic dysostosis. Their website provides information on the available testing options, the genes involved in the condition, and the process for ordering a test.
  • GeneReviews: GeneReviews is a comprehensive resource providing up-to-date, peer-reviewed information on genetic disorders. The GeneReviews entry on spondylocostal dysostosis provides detailed information about the genetic causes, inheritance patterns, and symptoms of the condition.

By utilizing these patient support and advocacy resources, individuals and families affected by spondylothoracic dysostosis can gain a better understanding of the condition, find support from others facing similar challenges, and access the latest information on testing and treatment options.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive resource for genetic information, testing, and research on various diseases and conditions, including Spondylothoracic Dysostosis.

OMIM, or Online Mendelian Inheritance in Man, is a database that catalogs information on genes and genetic disorders. It serves as a valuable tool for clinicians, researchers, and patients seeking to learn more about specific genetic conditions.

Within the OMIM catalog, you can find detailed information on the genes associated with Spondylothoracic Dysostosis, the symptoms and inheritance patterns of the condition, as well as information on genetic testing and resources available for affected individuals and families.

The OMIM catalog organizes genes and diseases alphabetically, making it easy to find specific information. For example, under Spondylocostal Dysostosis, you will find a list of genes associated with this condition, such as Spondylothoracic Dysostosis (SOD). Each gene entry provides additional information, including the frequency of the condition, scientific articles and references supporting the information, and resources for genetic testing and counseling.

By exploring the OMIM catalog, patients, families, and healthcare providers can gain a better understanding of the causes, symptoms, and management options for Spondylothoracic Dysostosis, as well as other associated conditions.

OMIM also supports advocacy efforts by providing information on patient support organizations and resources for those affected by genetic disorders.

For more information on Spondylothoracic Dysostosis, and to learn about other related genetic conditions, visit the OMIM website and browse their extensive catalog of genes and diseases.

Scientific Articles on PubMed

There are several scientific articles available on PubMed that provide more information about Spondylothoracic dysostosis and its associated symptoms, diseases, and genetic causes. Here are some of the articles and resources you can find:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic conditions. It provides detailed information about the genes associated with Spondylothoracic dysostosis and other related conditions.
  • Genetic Testing: Ramirez et al. published an article about the genetic testing strategies for diagnosing Spondylothoracic dysostosis. The article provides detailed information about the testing methods and their frequency of use in clinical practice.
  • Advocacy and Support: The Spondylothoracic Dysplasia Registry and Advocacy Center is a resource dedicated to providing support and information for patients and families affected by this rare condition. They offer resources and information about the condition, testing, and more.
  • Additional Articles: There are several additional scientific articles available on PubMed that provide more information about Spondylothoracic dysostosis. These articles discuss the associated symptoms, causes, and management options for this condition.

By exploring these articles and resources, you can learn more about Spondylothoracic dysostosis and stay informed about the latest scientific advancements in the field.

References

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