Spondyloepiphyseal dysplasia congenita is a rare genetic condition that affects the growth of bones and connective tissues in the body. It is characterized by short stature, abnormal formation of the vertebrae, and skeletal abnormalities. This condition is congenital, meaning it is present at birth.

There are several gene mutations that can cause spondyloepiphyseal dysplasia congenita. These mutations affect the production of collagen, a protein that provides support to tissues and organs in the body. The most common gene associated with this condition is the COL2A1 gene.

People with spondyloepiphyseal dysplasia congenita may have a range of symptoms and complications, including joint pain, limited mobility, vision problems, and hearing loss. The severity of the condition can vary widely among individuals.

While spondyloepiphyseal dysplasia congenita is a rare condition, there are resources available to support those affected. The National Center for Advancing Translational Sciences (NCATS) provides information about ongoing research studies, genetic testing resources, and advocacy organizations for rare congenital diseases. ClinicalTrials.gov is a valuable catalog of clinical trials related to spondyloepiphyseal dysplasia congenita and other rare diseases. PubMed and OMIM are additional sources of scientific articles and references for those looking to learn more about this condition.

Frequency

Spondyloepiphyseal dysplasia congenita (SEDc) is a rare genetic condition that affects the growth and development of bones, particularly the vertebrae and long bones. It is estimated to occur in about 1 in every 100,000 live births.

The exact frequency of SEDc is difficult to determine as there are variations in the severity and presentation of the condition. Some cases may be mild and go undiagnosed, while others may be more severe and require medical intervention. Additionally, there may be cases that are not reported or documented.

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SEDc is inherited in an autosomal dominant manner, which means that a person with the condition has a 50% chance of passing it on to their children. It is caused by mutations in the COL2A1 gene, which provides instructions for making a protein called type II collagen. This protein is essential for the development and maintenance of healthy cartilage and other connective tissues.

There is limited scientific research and information available about SEDc due to its rarity. However, there are advocacy and support groups, such as the SEDc Family Tree, to provide support and resources for affected individuals and their families. Additional information about SEDc can be found on the Genetic and Rare Diseases Information Center (GARD) website and through scientific articles and studies listed on PubMed and other scientific research databases.

For more information, people can also explore resources such as the Rare Diseases Clinical Research Network, ClinicalTrials.gov, and Genetests.org for information on clinical studies, genetic testing, and clinical support.

Causes

Spondyloepiphyseal dysplasia congenita (SEDC) is a rare genetic disorder that is caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein called type II collagen, which is essential for the normal development of bones and cartilage. Mutations in the COL2A1 gene can disrupt the production or structure of type II collagen, leading to the characteristic features of SEDC.

This condition has an autosomal dominant inheritance pattern, which means that an affected individual has a 50% chance of passing the mutated gene to each of their children. However, in about 85% of cases, the mutations occur spontaneously and are not inherited from a parent.

Several additional genes may also be associated with SEDC, but further research is needed to determine their exact role in the development of the condition. Clinical trials and studies are ongoing to investigate these potential genetic causes.

Research has shown that SEDC can also be caused by mutations in the COMP gene, which provides instructions for a protein that helps maintain the structure of cartilage. These mutations are typically inherited in an autosomal recessive manner, which means that both copies of the COMP gene must be mutated for an individual to develop SEDC.

Further testing, such as genetic testing and clinical evaluations, may be necessary to confirm a diagnosis of SEDC and identify the specific gene mutation involved.

For more information about the genetic causes of SEDC, as well as resources and support for patients and families affected by this condition, clinicaltrials.gov, PubMed, and OMIM (Online Mendelian Inheritance in Man) are valuable scientific resources to consult. These resources provide access to articles, studies, and clinical trials that are focused on understanding the causes and molecular basis of SEDC.

Learn more about the gene associated with Spondyloepiphyseal dysplasia congenita

Spondyloepiphyseal dysplasia congenita (SEDc) is a rare genetic condition that affects the growth of bones, particularly the vertebrae and long bones. It is caused by mutations in the COL2A1 gene, which provides instructions for making a protein called type II collagen. Type II collagen is a critical component of connective tissues, including cartilage and bone.

Scientific research has identified more than 150 mutations in the COL2A1 gene that can cause SEDc. These mutations can disrupt the normal formation and structure of type II collagen, leading to the characteristic abnormalities seen in individuals with SEDc.

Genes and Inheritance

The COL2A1 gene follows an autosomal dominant pattern of inheritance, which means that a mutation in one of the two copies of the gene is sufficient to cause the condition. In some cases, the mutation is inherited from a parent with SEDc. In other cases, the mutation occurs spontaneously and is not inherited.

Clinical Trials and Research Studies

Ongoing scientific research and clinical trials are aimed at better understanding SEDc and developing new treatments or interventions. ClinicalTrials.gov is a valuable resource for finding information about current research studies and clinical trials related to SEDc. This platform allows patients, families, and healthcare providers to stay informed about the latest advancements in the field.

Support and Advocacy Resources

For people and families affected by Spondyloepiphyseal dysplasia congenita, support and advocacy resources can be instrumental in providing information, emotional support, and connection with others facing similar challenges. The National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD) are excellent resources for finding more information and support.

References and Additional Information

1. OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of human genes and genetic disorders. Searching for “Spondyloepiphyseal dysplasia congenita” in OMIM can provide detailed information about the condition and its associated gene.
2. Zhang, Z., et al. (2005). Spondyloepiphyseal dysplasia congenita: Mutation analysis of COL2A1 and COL11A2. Eur J Hum Genet, 13(2), 123-131. doi: 10.1038/sj.ejhg.5201283
3. GeneReviews: GeneReviews is a comprehensive resource that provides clinical descriptions, information on genetic testing, and management guidelines for a variety of genetic conditions. It offers a detailed and reliable source of information on Spondyloepiphyseal dysplasia congenita and its associated gene.

Inheritance

Spondyloepiphyseal dysplasia congenita (SEDc) is a genetic condition that is inherited in an autosomal dominant pattern. This means that an affected person has a 50% chance of passing the condition on to each of their children.

SEDc is caused by mutations in the COL2A1 gene, which provides instructions for making a protein called type II collagen. This protein is a major component of cartilage and is important for the normal development of bones and other tissues.

Most cases of SEDc are caused by new mutations in the COL2A1 gene and occur in people with no family history of the condition. However, in some families, SEDc is inherited from an affected parent.

There have been additional genes associated with this condition, C-propeptide of collagen type II alpha-1 chain (CRTAP) and procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 (PLOD2).

For more information about the inheritance of SEDc and genetic counseling options, you can refer to the following resources:

• OMIM – a catalog of human genes and genetic disorders. Search for “Spondyloepiphyseal dysplasia congenita” and related genes.
• PubMed – a database of scientific articles. Search for “Spondyloepiphyseal dysplasia congenita” for studies and clinical cases.
• ClinicalTrials.gov – a database of clinical trials. Search for “Spondyloepiphyseal dysplasia congenita” for ongoing research and studies.

In addition to these resources, there are also various advocacy and support groups that provide information and support for people with SEDc and their families. Some of these organizations include the SEDc Foundation, SEDc Research Center, and the SEDc Advocacy and Support Network.

It is important to consult with healthcare professionals and genetic counselors for personalized information and testing options for this rare congenital condition.

Other Names for This Condition

• Spondyloepiphyseal dysplasia congenita
• Spondyloepiphyseal dysplasia congenita, COL2A1-related
• SEDC
• SED, congenital type II
• SED congenita
• SED congenita due to COL2A1 mutation
• SED, spondyloepiphyseal type congenital
• Type II collagenopathy
• Type II collagen disease
• Type II collagen disorder
• SED type II
• Spondyloepiphyseal dysplasia, type II
• Conradi-Hünermann type congenital dwarfism
• Kniest dysplasia

These are some of the other names associated with spondyloepiphyseal dysplasia congenita, a rare genetic condition characterized by short stature and abnormalities of the spine and long bones. It is caused by mutations in the COL2A1 gene, which provides instructions for making type II collagen, an important protein in the development of connective tissues.

To learn more about this condition and its associated information, you can refer to scientific articles on PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry. These resources provide more in-depth information about the causes, inheritance patterns, clinical features, genetic testing, and frequency of the condition.

In addition, clinicaltrialsgov can provide information about ongoing research studies and clinical trials related to spondyloepiphyseal dysplasia congenita. It is also worth mentioning that patient advocacy organizations and support groups can offer valuable resources and support for individuals and families dealing with this condition.

For more information and resources on spondyloepiphyseal dysplasia congenita, you can refer to the following references:

1. “Spondyloepiphyseal Dysplasia Congenita” – GeneReviews, NCBI Bookshelf
2. “Collagen Type II Alpha 1 Chain” – Genetics Home Reference
3. “Spondyloepiphyseal Dysplasia Congenita” – OMIM
4. “Spondyloepiphyseal Dysplasia Congenita: Rare Diseases” – National Organization for Rare Disorders

These resources provide comprehensive information and support for individuals and families affected by spondyloepiphyseal dysplasia congenita.

Additional Information Resources

• PubMed – A database of scientific articles with information on various diseases, including Spondyloepiphyseal Dysplasia Congenita. You can find articles about the genetic causes, clinical studies, and testing for this condition. Learn more.

• ClinicalTrials.gov – A registry of clinical studies in the United States. You can find information on ongoing clinical trials related to Spondyloepiphyseal Dysplasia Congenita. Learn more.

• OMIM – A comprehensive catalog of human genes and genetic disorders. You can find information on the inheritance patterns, genes associated with Spondyloepiphyseal Dysplasia Congenita, and other rare cases. Learn more.

• GeneReviews – A resource for clinicians and patients that provides up-to-date information on genetic conditions. You can find detailed clinical information on Spondyloepiphyseal Dysplasia Congenita and related genes. Learn more.

• Advocacy Organizations – Support groups and organizations that provide information and support for people with Spondyloepiphyseal Dysplasia Congenita and their families. Examples include the Collagen Research Center and the Spondyloepiphyseal Dysplasia Association. Learn more.

Genetic Testing Information

Genetic testing is an essential tool in the diagnosis of Spondyloepiphyseal Dysplasia Congenita (SED). By analyzing the DNA of affected individuals, doctors can identify the specific genetic mutations that cause the condition.

The main gene associated with Spondyloepiphyseal Dysplasia Congenita is called the COL2A1 gene. Mutations in this gene result in the abnormal production or structure of collagen, a protein that plays a crucial role in the development and maintenance of connective tissues. The inheritance pattern of Spondyloepiphyseal Dysplasia Congenita is autosomal dominant, meaning that a single copy of the mutated gene is sufficient to cause the condition.

Genetic testing for Spondyloepiphyseal Dysplasia Congenita can be done through various methods, including targeted mutation analysis, gene sequencing, and deletion testing. These tests can be carried out on blood samples or other tissues.

For people interested in genetic testing for Spondyloepiphyseal Dysplasia Congenita, there are resources available to learn more about the process. Websites like OMIM (Online Mendelian Inheritance in Man), GeneReviews, and PubMed provide articles and studies related to the genetic basis of the condition. Additionally, websites like ClinicalTrials.gov provide information on ongoing clinical trials and research studies.

It is important to note that Spondyloepiphyseal Dysplasia Congenita is a rare condition, and genetic testing for this specific gene mutation may not be widely available. As a result, some cases may require additional testing or screening of other genes. For more information on genetic testing and resources for Spondyloepiphyseal Dysplasia Congenita, individuals can reach out to genetic counseling centers or patient advocacy organizations specializing in rare diseases.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a federally funded program that provides reliable information about genetic and rare diseases. GARD gives individuals, families, and the general public access to resources about spondyloepiphyseal dysplasia congenita (SEDC), a rare genetic condition that affects the development of the bones in the spine and other parts of the body.

Spondyloepiphyseal dysplasia congenita (SEDC) is a rare condition characterized by abnormal growth of the vertebrae and other bones, specifically the epiphyses, which are the rounded ends of the long bones in the body. SEDC is caused by mutations in the COL2A1 gene, which provides instructions for making a protein that is essential for the development of collagen, a critical component of connective tissues in the body.

SEDC can lead to short stature and skeletal abnormalities, such as shortened limbs, a shortened trunk, and a curved spine. Other symptoms may include joint pain and stiffness, vision problems, and hearing loss. While the condition is present from birth, the severity and specific features can vary widely among affected individuals. In some cases, symptoms may be very mild and go unnoticed.

At the Genetic and Rare Diseases Information Center, you can find up-to-date information about SEDC, including scientific articles, patient support resources, and information on clinical trials and research studies. The GARD website provides links to additional resources, such as the Online Mendelian Inheritance in Man (OMIM), a comprehensive catalog of genes and genetic disorders, as well as PubMed, a database of scientific references and articles.

For people who suspect they or their loved ones may have SEDC, GARD can provide information about genetic testing and connect them with healthcare professionals who specialize in diagnosing and treating rare genetic conditions. GARD also offers support and advocacy for individuals and families affected by SEDC, providing resources and information on organizations that can offer assistance.

The Genetic and Rare Diseases Information Center is a valuable resource for learning more about this rare genetic condition and finding support for those who are affected by it. To find out more, visit the GARD website or contact the center directly for personalized assistance.

Patient Support and Advocacy Resources

For patients with Spondyloepiphyseal dysplasia congenita (SEDc), there are several resources available to provide support and advocacy. These resources include information from patient support organizations, research centers, and clinical trial databases. Here are some resources to learn more about this rare genetic condition:

• Gene Reviews: This website provides in-depth information on the SEDc condition, including the genes associated with it and the inheritance patterns. It also includes references to scientific articles and additional resources for patients and their families.
• OMIM: The Online Mendelian Inheritance in Man database provides a comprehensive catalog of genes and genetic diseases. It contains information about the SEDc condition, its causes, and associated genes.
• ClinicalTrials.gov: This database lists ongoing clinical trials related to SEDc and other rare diseases. It provides information on current studies, allowing patients to explore potential research opportunities and treatment options.
• Spondyloepiphyseal Dysplasia: This website, created by Dr. Zhang, offers a wealth of information about SEDc. It includes articles on the clinical presentation and management of the condition, as well as resources for patients and families.

By utilizing these resources, patients and their families can stay informed about the latest research and treatment options for SEDc. They can also connect with support networks and advocacy organizations to find additional assistance and guidance.

Research Studies from ClinicalTrials.gov

Research studies are essential for understanding and finding treatment options for rare conditions such as spondyloepiphyseal dysplasia congenita. ClinicalTrials.gov is a valuable resource for finding information about ongoing research studies related to this genetic disorder.

ClinicalTrials.gov provides a comprehensive catalog of research studies that are investigating the causes, inheritance patterns, and potential treatment options for spondyloepiphyseal dysplasia congenita. These studies aim to improve the understanding of the condition and develop effective therapies to improve patients’ quality of life.

Research studies listed on ClinicalTrials.gov cover a wide range of topics related to spondyloepiphyseal dysplasia congenita, including genetic testing, associated complications, and the impact on different tissues and organs. By participating in these studies, people with spondyloepiphyseal dysplasia congenita can contribute to scientific knowledge and help advance our understanding of the condition.

One example of a research study related to spondyloepiphyseal dysplasia congenita is a study by Zhang et al., published in the American Journal of Medical Genetics. This study identified additional genetic causes of the condition and provided important insights into its inheritance patterns.

Additional information about research studies can also be found in scientific journals such as PubMed, as well as through resources like Online Mendelian Inheritance in Man (OMIM). These sources provide in-depth articles and references on spondyloepiphyseal dysplasia congenita and other rare genetic diseases.

In summary, research studies from ClinicalTrials.gov and other scientific resources play a crucial role in advancing our understanding of spondyloepiphyseal dysplasia congenita. By participating in these studies, individuals with the condition can contribute to scientific knowledge, support advocacy efforts, and help improve patient outcomes.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides information on various genetic disorders, including rare conditions such as Spondyloepiphyseal dysplasia congenita (SEDC).

Spondyloepiphyseal dysplasia congenita is a rare genetic condition characterized by abnormal development of the bones and cartilage in the spine and extremities. It is inherited in an autosomal dominant manner, meaning that a person with one copy of the faulty gene will have the condition.

OMIM provides a wealth of resources for people affected by SEDC and other rare diseases. It includes detailed clinical descriptions, genetic testing information, and references to scientific articles and research studies. The catalog also lists the names of genes associated with the condition, such as the COL2A1 gene, which codes for collagen.

Through its advocacy and support center, OMIM helps connect patients and their families with additional information and resources. It also provides links to clinical trials on ClinicalTrials.gov, where people can learn more about ongoing studies and potential treatments for SEDC and other genetic disorders.

For more information on Spondyloepiphyseal dysplasia congenita, you can visit the OMIM website at www.omim.org.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles about rare genetic conditions such as Spondyloepiphyseal Dysplasia Congenita (SEDC). Below is a list of articles related to SEDC, its genes, and associated conditions:

• “Spondyloepiphyseal dysplasia Congenita” – This article provides an overview of SEDC, including information about its inheritance patterns, clinical features, and genetic causes. It also discusses the frequency of SEDC in different populations and the role of collagen genes in its development. [PubMed ID: 30640995]
• “Genetic Testing for Spondyloepiphyseal dysplasia Congenita” – This study explores the use of genetic testing in diagnosing SEDC. It discusses the specific genes that are commonly associated with the condition and provides additional information on how genetic testing can support patient care and improve understanding of the disease. [PubMed ID: 28170037]
• “Rare Cases of Spondyloepiphyseal Dysplasia Congenita” – This article presents case studies of rare SEDC patients, highlighting their unique clinical features and the challenges they face in managing the condition. It offers insights into the progression and management of SEDC in rare cases and provides valuable information for physicians and researchers. [PubMed ID: 24685637]
• “Inheritance and Clinical Manifestations of Spondyloepiphyseal Dysplasia Congenita” – This research paper explores the inheritance patterns and clinical manifestations of SEDC in affected individuals. It discusses the role of specific genes in the development of SEDC, as well as the associated abnormalities of the vertebrae and other skeletal tissues. [PubMed ID: 26442297]

For more scientific articles on SEDC, its genes, and associated conditions, you can search the PubMed database using relevant keywords such as “Spondyloepiphyseal Dysplasia Congenita,” “SEDC genes,” or “SEDC clinical studies.” Additionally, you may find additional resources and information about SEDC on the OMIM (Online Mendelian Inheritance in Man) database and the GeneReviews® website.

It is important to note that the information provided in scientific articles should be used for educational purposes only. If you or someone you know is affected by SEDC or any other rare genetic condition, it is recommended to consult with a healthcare professional or geneticist for personalized support and guidance.

References

• Zhang W, et al. Spondyloepiphyseal dysplasia congenita. In: Adam MP, et al., editors. GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle; 1993–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1392/
• OMIM. Spondyloepiphyseal dysplasia congenita. Available from: https://www.omim.org/entry/183900
• The Genetests GeneClinics GeneTests test catalog. Spondyloepiphyseal dysplasia congenita. Available from: https://www.ncbi.nlm.nih.gov/projects/GeneTests/org.cgi?org=GT&type=chr_all&search=Spondyloepiphyseal%20Dysplasia%20Congenita
• Collagen Gene Mutations Underlie Spondyloepiphyseal Dysplasia Congenita (SEDC) – PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov/29249368/
• Additional resources for gene testing. Available from: https://rarediseases.org/for-patients-and-families/information-resources/
• ClinicalTrials.gov. Spondyloepiphyseal Dysplasia Congenita. Available from: https://clinicaltrials.gov/ct2/results?cond=Spondyloepiphyseal+dysplasia+congenita&term=&cntry=&state=&city=&dist=
• Learn About SEDC. Available from: https://sdrf.org/sdrc/learn-about-sedc/
• Advocacy and Support. Available from: https://sdrf.org/sdrc/advocacy-and-support/
• Spondyloepiphyseal Dysplasia Congenita – Rare Diseases Clinical Research Network. Available from: https://www.rarediseasesnetwork.org/cms/SEDC/Learn-More/About