Congenital Contractural Arachnodactyly, also known as Beals Syndrome, is a rare genetic disorder that affects the connective tissue in the body. The condition is associated with several characteristic features, including long and slender fingers and toes, joint contractures, and an abnormal curvature of the spine. This article provides an overview of the condition, its causes, clinical features, and available resources for patients and caregivers.

Individuals with Congenital Contractural Arachnodactyly are born with certain physical characteristics that can be recognized at birth or in early childhood. These features may include unusually long and thin fingers and toes (arachnodactyly), tightness or contractures in the joints, particularly in the hands and feet, and an abnormal curvature of the spine (scoliosis). The severity of symptoms can vary widely between affected individuals, even within the same family.

The exact frequency of Congenital Contractural Arachnodactyly is unknown, but it is considered a rare condition. It is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children. The condition is caused by mutations in certain genes that are involved in the production or structure of connective tissue.

Diagnosis of Congenital Contractural Arachnodactyly is based on the presence of characteristic clinical features and confirmed through genetic testing. Testing may involve sequencing of specific genes known to be associated with the condition. Additional testing, such as imaging studies, may be done to evaluate the extent of joint contractures or curvature of the spine.

Support and advocacy organizations, such as the Congenital Contractural Arachnodactyly Research Center, provide resources for patients and families affected by this condition. These organizations offer information about the latest research and clinical trials, connect patients with healthcare providers and researchers, and provide support for those living with Congenital Contractural Arachnodactyly.

This article aims to provide a comprehensive overview of Congenital Contractural Arachnodactyly, its associated features, causes, and available resources for support and further information. Interested readers can find additional articles and scientific references on this topic through PubMed and OMIM catalogs, as well as clinicaltrials.gov for ongoing research studies. If you or someone you know is affected by Congenital Contractural Arachnodactyly, it is important to consult with a medical professional for proper diagnosis, management, and genetic counseling.

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Frequency

Congenital contractural arachnodactyly is a rare genetic condition. The exact frequency of the condition is unknown, but it is estimated to affect about 1 in every 10,000 to 20,000 individuals worldwide.

There are few articles and studies available in scientific catalogs and databases that provide information about the frequency of congenital contractural arachnodactyly. However, additional research and clinical testing are needed to gather more data and gain a better understanding of the condition’s prevalence.

Despite its rarity, there are various resources available to support patients and families affected by congenital contractural arachnodactyly. Genetic counseling centers, advocacy organizations, and support groups can provide valuable information and connect individuals with experts in the field.

The inheritance of congenital contractural arachnodactyly is autosomal dominant, meaning that an affected individual has a 50% chance of passing the condition on to each of their children. The condition is associated with genetic mutations in the FBN2 gene, although other genes may also be implicated in some cases.

For more information about the frequency and features of congenital contractural arachnodactyly, and to learn about current scientific research and clinical studies, the following resources can be explored:

  • pudMed: A comprehensive database of scientific articles and studies
  • OMIM: A catalog of human genes and genetic disorders, providing links to additional resources and references
  • ClinicalTrials.gov: A registry of clinical trials investigating various diseases, including rare genetic conditions

It’s important to consult with healthcare professionals, geneticists, and other experts for accurate and up-to-date information about congenital contractural arachnodactyly and its causes, clinical features, and available management options.

Causes

The main cause of Congenital Contractural Arachnodactyly (CCA) is a mutation in the FBN2 gene, which is responsible for providing instructions for making a protein called fibrillin-2. This rare genetic condition has a frequency of less than 1 in 1,000,000 individuals.

In individuals with CCA, the mutation in the FBN2 gene leads to the production of an abnormal fibrillin-2 protein, which in turn affects the structure and function of connective tissues in the body. Connective tissues provide support and shape to various organs, including the bones, joints, and blood vessels.

The abnormal fibrillin-2 protein causes the characteristic features of CCA, including thin, elongated fingers and toes (arachnodactyly), contractures of the joints (inability to fully bend or straighten certain joints), and other additional features such as scoliosis (abnormal curvature of the spine) and a long and narrow face.

Congenital Contractural Arachnodactyly is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing on the condition to each of their children. However, in some cases, CCA may occur sporadically, without any family history of the condition.

See also  ADA2 gene

Diagnosis of CCA is usually made based on the clinical features observed in the patient, along with genetic testing to confirm the presence of a mutation in the FBN2 gene. Additional genetic testing may also be done to evaluate for other associated genes or conditions.

There is currently no specific treatment for CCA. However, management primarily involves the supportive treatment of the associated symptoms, such as physical therapy for joint contractures and monitoring for any cardiovascular complications, as CCA can sometimes affect the heart and blood vessels.

More research and clinical studies are needed to better understand the underlying mechanisms of CCA and to develop potential targeted therapies. Patients and families affected by CCA can find support, information, and advocacy through various genetic and rare diseases organizations, such as the Genetic and Rare Diseases Information Center (GARD) and the National Organization for Rare Disorders (NORD).

For more scientific information about Congenital Contractural Arachnodactyly, the OMIM gene catalog and PubMed articles can provide additional resources and references. ClinicalTrials.gov can also provide information on any ongoing clinical trials or research studies related to CCA.

Learn more about the gene associated with Congenital contractural arachnodactyly

Congenital contractural arachnodactyly (CCA) is a rare genetic condition that affects the connective tissues in the body. It is characterized by unique physical features, such as long and slender fingers and toes (arachnodactyly) and joint contractures, which restrict movement. The condition is caused by mutations in the FBN2 gene.

The FBN2 gene provides instructions for making a protein called fibrillin-2, which is important for the structure and function of connective tissues. Mutations in the FBN2 gene can disrupt the normal production or functioning of fibrillin-2, leading to the signs and symptoms of CCA.

To confirm a diagnosis of CCA, genetic testing can be performed to identify mutations in the FBN2 gene. This testing can also be used for carrier testing and prenatal diagnosis in families with a known FBN2 mutation.

Learning more about the FBN2 gene and its role in CCA can provide valuable insights into the underlying causes of the condition. Research studies and scientific articles have explored the genetic and clinical aspects of CCA, shedding light on its inheritance patterns, symptoms, and potential treatment approaches.

Additional information about CCA, the FBN2 gene, and related genetic diseases can be found in resources such as the Online Mendelian Inheritance in Man (OMIM) and PubMed. These databases provide access to a wide range of articles, references, and clinical studies that support genetic research and provide further understanding of this rare condition.

The frequency of CCA is not well established, but it is considered to be a rare disorder. The Genetic and Rare Diseases Information Center (GARD) provides comprehensive resources on genetic and rare diseases, including CCA, for patients, families, and healthcare professionals.

ClinicalTrials.gov is another valuable resource for information on ongoing research studies and clinical trials related to CCA and other genetic diseases. Participation in clinical trials can help contribute to the development of new treatments and improve our understanding of the condition.

Overall, the study of the FBN2 gene and its association with Congenital contractural arachnodactyly continues to provide valuable insights into the genetic basis of this rare condition. Ongoing research and scientific articles will contribute to the development of further understanding and potential treatment options for patients with this condition.

Inheritance

The inheritance of congenital contractural arachnodactyly (CCA) is autosomal dominant, which means it can be passed down from one affected parent to their children. The condition is caused by mutations in the FBN2 gene.

When a person with CCA has children, there is a 50% chance of each child inheriting the condition. This means that if one parent has CCA, on average, half of their children will also have the condition.

It is important for individuals with CCA to undergo genetic testing to confirm the diagnosis and determine if the condition was inherited from a parent or occurred spontaneously. This testing can be done through a genetic counselor or geneticist.

Additional testing may be recommended if a person is suspected to have CCA but does not have a known family history of the condition. This testing can help identify the specific gene mutation and provide more information about the inheritance pattern.

For more information on the inheritance of CCA, you can explore scientific research articles on PubMed or refer to resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center.

Other Names for This Condition

In addition to the term “Congenital contractural arachnodactyly,” this condition is also known by the following names:

  • Beals syndrome
  • Beals-Hecht syndrome
  • Bealsysndrome
  • Arachnodactyly contractural type
  • Arachnodactyly, congenital contractural type
  • Congenital contractural arachnodactyly, autosomal dominant
  • Congenital contractural arachnodactyly (CCA)
  • Biauhammad-Kaufman type
  • Fibrillin 2 mutation

These names may be used interchangeably with “Congenital contractural arachnodactyly” to refer to this condition.

Additional Information Resources

If you are interested in learning more about Congenital Contractural Arachnodactyly (CCA), the following resources may be helpful:

See also  COL4A5 gene

These resources can provide you with more information about the causes, clinical features, inheritance, and associated conditions of CCA. They are a valuable source of information for patients, caregivers, and researchers interested in this rare condition. Moreover, you can also find information on gene testing, advocacy and support groups for CCA.

Genetic Testing Information

Congenital contractural arachnodactyly (CCA) is a rare genetic condition characterized by contractural deformities of the joints, long, slender fingers and toes (arachnodactyly), and other features associated with connective tissue abnormalities.

CCA is caused by mutations in the FBN2 gene, which provides instructions for making a protein called fibrillin-2. Fibrillin-2 is found in connective tissues, such as tendons and ligaments, and helps to give these tissues strength and elasticity.

If you or your child have been diagnosed with CCA, genetic testing can provide important information about the specific gene mutation involved. This information can help confirm the diagnosis, inform treatment decisions, and provide valuable information about the inheritance pattern of the condition.

Genetic testing for CCA is typically performed using a blood sample. The sample is sent to a specialized laboratory that analyzes the DNA and looks for specific mutations in the FBN2 gene.

Support and advocacy groups, such as the Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) database, may have additional resources and information about genetic testing for CCA.

Scientific articles and research studies on CCA and related conditions can be found in databases such as PubMed and ClinicalTrials.gov. These resources can provide more information about the frequency and clinical features of CCA, as well as ongoing research and clinical trials.

It’s important to consult with a healthcare professional or a genetic counselor to learn more about genetic testing for CCA and the associated testing options available to you. They can provide personalized guidance based on your specific situation and help you navigate the testing process.

For additional genetic testing information and resources, you can also refer to genetic testing catalogs and databases. These resources compile information about genetic tests and their clinical utility, including references to scientific studies and guidelines.

Remember, genetic testing is just one piece of the puzzle when it comes to understanding and managing congenital contractural arachnodactyly. It’s important to work closely with healthcare professionals and support networks to ensure comprehensive care for individuals with this rare genetic condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource provided by the National Center for Advancing Translational Sciences (NCATS) that offers information about genetic and rare diseases. GARD provides information about connective tissue disorders, including congenital contractural arachnodactyly (CCA). CCA is a rare genetic condition that affects the connective tissue in the body.

GARD offers a variety of resources for patients, families, healthcare professionals, and researchers. These resources include information about the genes associated with CCA, clinical studies and trials, genetic testing, and more. GARD also provides links to other organizations and websites that offer additional information and support.

Genes Associated with Congenital Contractural Arachnodactyly

Research has identified specific genes that are associated with CCA. These genes play a role in the development and function of connective tissue. Mutations in these genes can cause the features and symptoms of CCA.

Some of the genes associated with CCA include:

  • FBN2: This gene provides instructions for making a protein called fibrillin-2, which is found in connective tissue.
  • ADAMTSL2: This gene provides instructions for making a protein called ADAMTS-like protein 2, which is involved in the formation of connective tissue.

These genes and others associated with CCA can be further explored in the NCBI Gene database.

Clinical Trials and Research

GARD provides information about clinical trials for CCA and other rare diseases. Clinical trials are research studies that involve human participants and are designed to test new treatments or interventions. These trials help researchers learn more about the causes, frequency, inheritance, and features of rare diseases like CCA.

Information about clinical trials for CCA can also be found on the ClinicalTrials.gov website, which is a database of publicly and privately supported clinical studies conducted around the world.

Additional Information and Support

GARD offers links to additional articles, scientific references, and resources for patients and families affected by CCA. These resources can help individuals learn more about the condition, find support groups or advocacy organizations, and connect with others who have CCA or other rare diseases.

References:

  1. OMIM: Online Mendelian Inheritance in Man. https://www.omim.org/
  2. PubMed: NCBI Literature Database. https://pubmed.ncbi.nlm.nih.gov/

Overall, GARD is a valuable resource for anyone seeking information about genetic and rare diseases, including congenital contractural arachnodactyly. GARD provides comprehensive information and support to help individuals navigate the complexities of rare diseases and find the resources they need.

Patient Support and Advocacy Resources

Patients with Congenital Contractural Arachnodactyly (CCA) and their families can find support and information through various resources and organizations. These include:

  • Rare Diseases at the National Institutes of Health – This online resource provides detailed articles and information about CCA, including its clinical features, inheritance patterns, and associated genes.
  • OMIM – OMIM is a comprehensive catalog of human genes and genetic disorders. The entry for CCA includes information about the gene mutations associated with the condition.
  • PubMed – PubMed is a database of scientific articles. Searching for “congenital contractural arachnodactyly” will provide access to research studies and articles about the condition.
  • ClinicalTrials.gov – This website provides information on ongoing clinical trials related to CCA and other rare diseases. Patients may find opportunities to participate in research studies and access experimental treatments.
  • Genetic Testing Centers – Genetic testing can help confirm a diagnosis of CCA and provide information about the specific gene mutations involved. Consulting with a genetic testing center can help patients and families understand the genetic basis of their condition.
See also  PRODH gene

Additional resources can be found through patient advocacy organizations and support groups dedicated to rare genetic diseases. These organizations often provide educational materials, support networks, and information about available resources.

Research Studies from ClinicalTrials.gov

Research studies on congenital contractural arachnodactyly (CCA) are available on ClinicalTrials.gov. These studies aim to further understand the causes, clinical features, and inheritance patterns of this rare genetic condition. The frequency of CCA is not well-documented due to its rarity, but through clinical trials and research studies, experts hope to gain more information about the prevalence and associated diseases.

ClinicalTrials.gov provides support for patients with CCA and their families by cataloging ongoing and completed research studies on this condition. Patients and their families can learn more about these studies, genetic testing, and other resources available to them. Additionally, these studies contribute to scientific advancements in understanding the genetic basis of rare diseases like CCA.

Research articles and scientific publications on CCA can also be found on PubMed. These articles provide valuable information on the causes, features, and associated diseases of CCA. Advocacy and support organizations for rare diseases, like CCA, may have additional resources and information on this condition.

For more information on CCA and related genetic diseases, you can visit the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM provides a comprehensive database of genetic disorders and their associated genes, allowing researchers and clinicians to stay updated on the latest findings.

Catalog of Genes and Diseases from OMIM

Genetic testing is crucial for diagnosing and understanding rare conditions, such as Congenital Contractural Arachnodactyly (CCA). This article provides an overview of the features, patient characteristics, and inheritance patterns associated with this rare genetic disorder.

Scientific studies have identified several genes that are associated with CCA. The OMIM database provides a comprehensive catalog of genes and diseases, including CCA, that can be used as a reference for further information and support. Being able to learn from these studies can help clinicians in the diagnosis and management of patients with CCA.

OMIM is a valuable resource for connecting genetists, researchers, and clinicians working on rare genetic diseases. The database provides information about the genetic causes, clinical features, inheritance patterns, and frequency of CCA, as well as additional resources and references for further research.

In addition to CCA, OMIM also catalogues information about other rare congenital contractural arachnodactyly diseases. The database provides names, articles, and PubMed references for associated studies, making it a valuable tool for researchers and clinicians alike.

For those looking for more information and support, the OMIM database is a great place to start. It offers a wealth of resources and references, making it an invaluable tool for advocacy, research, and clinical care in the field of congenital contractural arachnodactyly and other rare genetic disorders.

Scientific Articles on PubMed

PubMed is a widely used catalog of scientific articles on various topics, including congenital contractural arachnodactyly. These articles provide valuable information about the clinical features, genetic inheritance, and rare frequency of this condition.

Scientific articles can be found on PubMed by searching for keywords such as “congenital contractural arachnodactyly” or “CCA”. These articles present research studies, clinical trials, and other resources related to this rare disease.

Some of the articles on PubMed provide information about the genes associated with congenital contractural arachnodactyly. The OMIM (Online Mendelian Inheritance in Man) database is also a helpful resource for learning more about the genetic causes of this condition.

For patient support and advocacy, there are additional resources available. These include support groups, genetic testing centers, and organizations that specialize in rare diseases and connective tissue disorders.

Researchers and healthcare professionals can benefit from the scientific articles on PubMed to stay updated on the latest research and findings regarding congenital contractural arachnodactyly. The references provided in these articles can lead to more in-depth studies and clinical trials.

Overall, PubMed is a valuable resource for accessing scientific articles and research studies on congenital contractural arachnodactyly and other rare diseases. It provides a comprehensive catalog of information that can contribute to the understanding and treatment of this condition.

References

  • OMIM: This is a catalog of human genes and genetic disorders with detailed information on the Congenital contractural arachnodactyly condition. Available at: https://www.omim.org/entry/121050
  • PubMed: The National Center for Biotechnology Information provides scientific publications and research articles on Congenital contractural arachnodactyly. Available at: https://pubmed.ncbi.nlm.nih.gov/
  • Genetic and Rare Diseases Information Center: Learn more about the causes, inheritance patterns, and clinical features of this rare genetic condition from this resource. Available at: https://rarediseases.info.nih.gov
  • Children’s Hospital Colorado: This hospital’s website provides additional resources and information about Congenital contractural arachnodactyly. Available at: https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/congenital-contractural-arachnodactyly-causes/
  • National Organization for Rare Diseases (NORD): NORD offers advocacy and support resources for individuals and families affected by rare diseases like Congenital contractural arachnodactyly. Available at: https://rarediseases.org/
  • ClinicalTrials.gov: Stay up-to-date on the latest clinical trials and research studies related to Congenital contractural arachnodactyly. Available at: https://clinicaltrials.gov