Diastrophic dysplasia is a rare genetic condition characterized by skeletal abnormalities and short stature. It is one of the more common types of dwarfism, with an estimated frequency of 1 in 100,000 newborns. This condition is associated with mutations in the SLC26A2 gene.

Diastrophic dysplasia affects the development of cartilage and bone throughout the body. The characteristic features of this condition include short limbs, joint deformities, scoliosis, and cleft palate. Each individual with diastrophic dysplasia may present with a unique combination of these symptoms.

The genetic cause of diastrophic dysplasia has been extensively studied. The SLC26A2 gene provides instructions for producing a protein called sulfate transporter. Mutations in this gene result in a dysfunctional protein, leading to the characteristic skeletal abnormalities seen in this condition. The inheritance pattern of diastrophic dysplasia is autosomal recessive, meaning that both parents must be carriers of the mutated gene for a child to be affected.

For more information about diastrophic dysplasia, a comprehensive catalog of scientific articles and other resources can be found on the Online Mendelian Inheritance in Man (OMIM) website. The OMIM database provides detailed information about the genes, inheritance patterns, and associated diseases. Additionally, advocacy groups and patient support centers can provide further resources and support for individuals and families affected by this rare genetic condition.

Frequency

Diastrophic dysplasia is a rare genetic condition. Its frequency is estimated to be about 1 in 100,000 newborns.

Inherited in an autosomal recessive manner, the condition is caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein called sulfate transporter. Mutations in this gene impair the normal development and maintenance of cartilage and other tissues in the body.

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Information about the frequency of diastrophic dysplasia and other rare diseases can be found in medical databases and scientific catalogs such as PubMed and OMIM. These resources provide valuable information for healthcare professionals, researchers, and patients looking to learn more about rare genetic conditions.

Genetic testing is available to confirm a diagnosis of diastrophic dysplasia and to identify mutations in the SLC26A2 gene. This testing can also help determine whether other family members are carriers of the condition.

Advocacy organizations and support groups for diastrophic dysplasia and other rare genetic conditions can provide additional resources and information for patients and their families. These organizations often publish articles and provide support and education about the condition, its inheritance, and its development.

Overall, diastrophic dysplasia is a rare genetic condition with a frequency of about 1 in 100,000 newborns. Genetic testing and resources from organizations and scientific references can help individuals learn more about this condition and find support.

Causes

Diastrophic dysplasia is a rare genetic condition that affects the development of bones and joints. It is caused by mutations in the SLC26A2 gene.

The SLC26A2 gene provides instructions for making a protein that is involved in the normal development of cartilage and other tissues that support the bones and joints. Mutations in this gene can result in the production of an abnormal protein or reduce the amount of functional protein produced. This disrupts the normal development of bones and joints, leading to the characteristic features of diastrophic dysplasia.

Diastrophic dysplasia is inherited in an autosomal recessive manner, which means that both copies of the SLC26A2 gene in each cell have mutations. People with diastrophic dysplasia inherit one mutated copy of the gene from each parent who carries a single copy of the gene. Carriers of a single copy of the gene typically do not show signs or symptoms of the disorder.

Advocacy groups and scientific resources, like the Diastrophic Dysplasia Research and Advocacy Group, provide support and information for patients and families affected by diastrophic dysplasia. They also raise awareness and promote research on this rare genetic condition.

For more information about diastrophic dysplasia and other rare genetic diseases, you can consult resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed articles, and other scientific publications.

Learn more about the gene associated with Diastrophic dysplasia

Diastrophic dysplasia is a rare genetic condition that affects the development of bones and other connective tissues in the body. It is caused by mutations in the SLC26A2 gene, which provides instructions for making a protein called a sulfate transporter. This gene is also known by other names such as DTD, DTDST, and DCS.

For more information about this rare genetic disease, you can refer to the following resources:

• The Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive information on a wide range of genetic diseases, including Diastrophic dysplasia. You can access the OMIM entry for Diastrophic dysplasia at www.omim.org/entry/222600.
• The National Institutes of Health’s Genetic Testing Registry, which provides information about the genetic tests available for Diastrophic dysplasia. You can find more details at www.ncbi.nlm.nih.gov/gtr/conditions/C0220720/.
• PubMed, a database of scientific articles, where you can find research papers and studies related to Diastrophic dysplasia and the SLC26A2 gene. Search for relevant articles at pubmed.ncbi.nlm.nih.gov/?term=diastrophic+dysplasia.
• The International Skeletal Dysplasia Registry, which provides additional information and support for patients with rare bone diseases, including Diastrophic dysplasia. Visit their website at www.isdc-info.org.

By learning more about the gene associated with Diastrophic dysplasia and utilizing the available resources, you can gain a better understanding of this condition and access important information and support.

Inheritance

Diastrophic dysplasia has an autosomal recessive inheritance pattern. This means that both parents must carry a mutation in the associated genes in order to have a child with this condition.

The gene associated with diastrophic dysplasia is called the SLC26A2 gene. Mutations in this gene can cause the condition. The SLC26A2 gene provides instructions for making a protein called sulfate transporter. This protein is important for the development of cartilage and other tissues in the body.

To learn more about the SLC26A2 gene, you can visit the NCBI Gene database.

Diastrophic dysplasia is a rare genetic condition, with a frequency of about 1 in 100,000 newborns worldwide. It is one of the many genetic diseases cataloged in the Online Mendelian Inheritance in Man (OMIM) database. You can find more information about diastrophic dysplasia on the OMIM entry for this condition.

Genetic testing can be done to confirm a diagnosis of diastrophic dysplasia. This testing can identify mutations in the SLC26A2 gene and other genes associated with similar skeletal dysplasias. It is important to note that not all cases of diastrophic dysplasia are caused by mutations in the SLC26A2 gene. There are other genes that can also cause similar conditions.

For additional support and information about diastrophic dysplasia, you can contact advocacy groups and patient resources like the Diastrophic Dysplasia Research and Advocacy Center. They may have more information, resources, and references to scientific articles on this condition.

Other Names for This Condition

Diastrophic dysplasia is also known by the following names:

• – Congenital painless congenital joint contractures
• – Atelosteogenesis type 2
• – Atelosteogenesis dwarfism
• – Diastrophic dwarfism
• – Diastrophic dwarfism type 1
• – Dwarfism provocative neville type
• – Short-rib dysplasia polydactyly

These names reflect the different aspects and associated features of this rare genetic condition.

Patient advocacy and support groups, such as the Diastrophic Dysplasia Research and Advocacy Center (DDRAC), provide more information and resources on diastrophic dysplasia and related rare diseases.

Additionally, genetic testing for diastrophic dysplasia and other related genes can be carried out to learn more about the condition’s development and inheritance. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are good resources for finding more articles and scientific references on this condition and associated genes.

Additional Information Resources

Diastrophic dysplasia is a rare genetic condition that affects the development of bones and other connective tissues in newborns. Here are some additional resources where you can learn more about this rare disease:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on the genetic causes of diseases. You can find more information about diastrophic dysplasia on the OMIM database by searching for the OMIM ID 222600.
• Genetics Home Reference: The Genetics Home Reference website provides consumer-friendly information about genetic conditions. They have an article on diastrophic dysplasia that includes information about the frequency of the condition, its inheritance pattern, and the associated genes. You can find this article by searching for “diastrophic dysplasia” on the Genetics Home Reference website.
• PubMed: PubMed is a database of scientific articles. There are many articles available on diastrophic dysplasia and related topics. You can search for these articles using keywords like “diastrophic dysplasia”, “Diastrophic Dysplasia gene”, or “Diastrophic Dysplasia genetics”.
• Genetic Testing: If you or someone you know has been diagnosed with diastrophic dysplasia, genetic testing may be available. Genetic testing can help confirm the diagnosis and provide more information about the specific gene mutations involved. You can speak with your healthcare provider or a genetic counseling center to learn more about genetic testing options.
• Support and Advocacy: There are several support and advocacy organizations that provide resources and support for individuals and families affected by diastrophic dysplasia. These organizations can help connect you with other individuals and families, provide educational materials, and offer support for navigating the challenges of living with a rare genetic condition. Some organizations you may find helpful include the Diastrophic Dysplasia Research Association and the Little People of America.
• Other Resources: In addition to the above resources, you can also find more information about diastrophic dysplasia in medical textbooks, research articles, and gene catalogs such as the Human Gene Mutation Database (HGMD) or the Online Catalog of Human Genes and Genetic Disorders (OMIM).

Remember, diastrophic dysplasia is a rare genetic condition, and it is important to consult with healthcare professionals and refer to reputable resources for accurate and up-to-date information.

Genetic Testing Information

Dysplasia is a rare genetic condition that affects the development of bones and cartilage. Genetic testing can provide important information about the underlying genetic causes of the condition.

Genetic testing can be done to identify specific gene mutations associated with diastrophic dysplasia. This information can help in making an accurate diagnosis, understanding the inheritance pattern, and providing appropriate counseling and management for the patient.

There are various resources available for genetic testing information. Here are some of the key references, articles, and other resources that provide information on genetic testing for diastrophic dysplasia:

• Catalog of Human Genes and Diseases (OMIM): This is a comprehensive catalog that provides detailed information on each gene, including associated diseases and inheritance patterns.
• GeneTests: This online resource provides a wide range of information and resources related to genetic testing and genetic disorders. It includes a directory of genetic testing laboratories.
• PubMed: This is a database of scientific articles and publications. Searching for “diastrophic dysplasia genetic testing” can provide a wealth of information on this topic.
• Genetic Centers: Many genetic centers specialize in rare genetic conditions, including diastrophic dysplasia. They can provide information on genetic testing options, counseling, and support.
• Advocacy Organizations: Organizations dedicated to rare genetic conditions often provide valuable information and support for patients and families. They may have resources on genetic testing and research development.

In summary, genetic testing is an important tool in diagnosing and understanding diastrophic dysplasia. Through genetic testing, healthcare professionals can identify specific gene mutations associated with the condition, providing valuable information for diagnosis, counseling, and management. Various resources, such as the OMIM catalog, GeneTests, PubMed, genetic centers, and advocacy organizations, offer additional support and information on genetic testing for diastrophic dysplasia.

Genetic and Rare Diseases Information Center

The Diastrophic dysplasia is a rare genetic condition that affects the development of newborns. It is also known by other names such as Diastrophic dwarfism, Dislocation-intervention-study-of-arthroplasty, and DTD.

This condition has a frequency of 1 in 100,000 births. It is associated with rare genetic mutations in the SLC26A2 gene. Inheritance of Diastrophic dysplasia is autosomal recessive, meaning that both parents must carry the mutated gene in order to pass it on to their children.

Patients with Diastrophic dysplasia often experience short stature, joint deformities, and skeletal abnormalities. Additional symptoms may include clubfeet, cleft palate, scoliosis, and hitchhiker thumbs. It is important for individuals with this condition to receive specialized medical care to address their unique needs.

To learn more about Diastrophic dysplasia, you can visit the Genetic and Rare Diseases Information Center (GARD) website. GARD is a comprehensive online resource that provides information and support for individuals with rare genetic diseases and their families.

GARD provides information on the causes, symptoms, and diagnosis of Diastrophic dysplasia. The website also includes scientific articles and references from PubMed, a database of scientific publications. Each article is accompanied by a citation and a link to the original source for further reading.

In addition, GARD offers resources for patients and families, including advocacy organizations and support groups. These organizations can provide support, connect individuals with resources, and help navigate the challenges of living with a rare genetic condition.

Resources available on the GARD website for Diastrophic dysplasia:

Resource	Description
Genetic and Rare Diseases (GARD) Information Center	A comprehensive catalog of information on genetic and rare diseases
Online Mendelian Inheritance in Man (OMIM)	A database of genes and genetic disorders

With the wealth of information available on the GARD website, individuals with Diastrophic dysplasia and their families can better understand their condition and find the support they need.

Genetic testing is available for Diastrophic dysplasia, and it can help confirm a diagnosis or provide information on the genetic cause of the condition. If you or your child has been diagnosed with Diastrophic dysplasia, your healthcare provider can guide you through the process of genetic testing.

Patient Support and Advocacy Resources

Living with a rare condition like Diastrophic Dysplasia can be extremely challenging. However, there are several organizations and resources available to provide support and advocacy for patients and their families. These resources offer information, guidance, and a sense of community to help individuals navigate the complexities of this condition.

• Diastrophic Dysplasia Research Association (DDRA): DDRA is dedicated to advancing scientific research and increasing awareness about Diastrophic Dysplasia. They provide valuable resources, support services, and educational materials for patients, healthcare professionals, and researchers.
• National Organization for Rare Disorders (NORD): NORD is a leading advocacy organization for rare diseases. Their website provides comprehensive information on Diastrophic Dysplasia, including symptoms, diagnosis, treatment options, and support services. They also offer resources for financial assistance and insurance guidance.
• GeneReviews: GeneReviews is a comprehensive online resource that provides up-to-date and peer-reviewed information on genetic diseases. Their entry on Diastrophic Dysplasia offers detailed information on the genetic basis of the condition, inheritance patterns, and genetic testing options.
• Online Mendelian Inheritance in Man (OMIM): OMIM is a database that provides in-depth information on genetic disorders. Their entry on Diastrophic Dysplasia includes a summary of the condition, associated genes, and references to relevant scientific articles.
• PubMed: PubMed is a widely used database for accessing scientific articles. Searching for “Diastrophic Dysplasia” on PubMed can provide additional scientific research and information on the condition, associated genes, and related topics.

These resources offer a wealth of information for patients and their families to learn more about Diastrophic Dysplasia. They provide support, advocacy, and access to valuable resources that can make a significant difference in the lives of individuals affected by this rare genetic condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive online resource that provides information about the rare and common genetic diseases. It catalogues genes and the diseases they are associated with, providing valuable scientific and clinical information for researchers, healthcare professionals, and patients.

The OMIM catalog includes information on the causes, inheritance patterns, associated symptoms, and frequency of diseases. It contains detailed descriptions of more than 20,000 genes and over 15,000 diseases, including Diastrophic Dysplasia.

For each gene and disease, OMIM provides a unique identifier, additional names, and links to relevant articles and scientific resources, such as PubMed. This allows users to access a wealth of information on the specific genetic condition they are interested in.

OMIM is a valuable tool for genetic testing, as it provides information on the genetic basis of diseases. It supports the development of new diagnostic tools and therapies by providing a comprehensive understanding of the underlying genetic mechanisms.

For patients and their families, OMIM offers a wide range of resources and support. It provides information on the latest research advancements and clinical trials for specific diseases, as well as advocacy organizations and patient support groups. This can help patients and their families connect with others facing similar challenges and find support.

Overall, the catalog of genes and diseases from OMIM is an essential resource for anyone interested in understanding and learning about the causes, inheritance patterns, and associated symptoms of rare genetic diseases like Diastrophic Dysplasia.

Scientific Articles on PubMed

Diastrophic dysplasia is a rare genetic condition characterized by skeletal abnormalities. The condition is caused by mutations in the SLC26A2 gene, which is responsible for producing a protein called diastrophic dysplasia sulfate transporter. This protein plays a crucial role in the development of cartilage and bones.

There are additional genes that have been associated with this condition, and ongoing research is exploring their role in diastrophic dysplasia. Scientific articles on PubMed provide valuable information about the genetic causes, frequency, inheritance, and development of diastrophic dysplasia, as well as its association with other diseases.

PubMed is a comprehensive database that contains a catalog of scientific articles from various sources. It is an invaluable resource for researchers, healthcare professionals, and individuals interested in learning more about diastrophic dysplasia and related genetic diseases.

A genetic test can be conducted to confirm the diagnosis of diastrophic dysplasia, and more information about genetic testing and resources can be found on the Online Mendelian Inheritance in Man (OMIM) website.

Advocacy groups and patient support organizations also provide resources and information about diastrophic dysplasia, including the latest scientific articles and research findings. They play a crucial role in raising awareness, supporting affected individuals and families, and advocating for further research and treatment options.

For newborns with diastrophic dysplasia, early intervention and management are essential for optimal outcomes. Regular monitoring, physical therapy, and orthopedic interventions can help improve mobility and quality of life for individuals with this condition.

References to scientific articles on PubMed can be found in various research papers, review articles, and medical textbooks. These articles provide in-depth insights into the genetic basis, clinical manifestations, and management of diastrophic dysplasia.

The frequency of diastrophic dysplasia is rare, with an estimated incidence of 1 in 100,000 newborns. The condition affects both males and females, and its severity can vary widely among affected individuals.

References

• More information on diastrophic dysplasia and other rare genetic diseases can be found on the following websites:

  • National Organization for Rare Diseases (NORD): https://rarediseases.org/

  • Catalog of Genetic Diseases: https://www.omim.org/

  • Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr/

• Scientific articles and additional information about diastrophic dysplasia can be found using the following references:

  1. Citation for the gene associated with diastrophic dysplasia:

     Gene: SLC26A2

  2. Common names and alternative names for diastrophic dysplasia:

     • Diastrophic dysplasia

     • DTD

     • Diastrophic dwarfism

  3. Patient advocacy and support resources for individuals with diastrophic dysplasia:

     • Learn more about diastrophic dysplasia: https://rarediseases.org/rare-diseases/diastrophic-dysplasia/

     • Information for patients and families: https://www.omim.org/entry/222600