VACTERL association is a rare condition characterized by the presence of several birth defects that often occur together. The term VACTERL is an acronym for the different components of the condition: Vertebral anomalies, Anal atresia, Cardiac defects, Tracheal esophageal fistula, Renal anomalies, and Limb abnormalities.

Research and clinical studies have been developed to find more information about the causes, frequency, and inheritance patterns of VACTERL association. The Pineda-Alvarez and Cummings studies, listed on clinicaltrials.gov, provide additional information on the condition.

These studies suggest that VACTERL association may be caused by a combination of genetic and environmental factors. It is estimated that around 10 to 40 percent of cases may have a genetic component, although specific genes have not been identified. The exact inheritance pattern is not well understood, but it is believed to be complex and multifactorial.

For patients and families affected by VACTERL association, it is important to have access to accurate and up-to-date information. Scientific articles and resources, such as the OMIM catalog and PubMed, can provide additional information and references on the condition.

In addition to scientific research, advocacy and support organizations play a crucial role in providing resources and support for individuals and families affected by VACTERL association. These organizations can help connect patients with healthcare providers, offer support groups, and provide information on available clinical trials, among other resources.

In conclusion, VACTERL association is a rare condition that involves various birth defects. Ongoing research and clinical studies are aimed at further understanding the causes, inheritance patterns, and treatment options for this condition. Access to accurate information and support from advocacy organizations can help improve the health and well-being of individuals with VACTERL association and their families.

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Frequency

• The VACTERL association is a rare condition that affects multiple organ systems.
• According to the Pineda-Alvarez classification, the prevalence is estimated to be around 1 in 10,000 to 1 in 40,000 live births.
• OMIM, an online catalog of human genes and genetic disorders, provides additional information about the frequency of VACTERL association.
• In a study conducted by Pineda-Alvarez et al., they found that around 17 percent of patients with anorectal malformations had VACTERL association.
• Research articles published on PubMed also provide resources related to the frequency and inheritance of VACTERL association.
• ClinicalTrials.gov is another valuable resource for information on ongoing clinical trials and research studies related to VACTERL association.

Other studies and resources

• In a study by Raam et al., they reported a frequency of VACTERL association in about 3 percent of patients with vertebral anomalies.
• The OMIM catalog also provides names and references to other articles on VACTERL association.
• The VACTERL association support and advocacy center provides information and support for families affected by the condition.
• The Cummings Center for the History of Psychology has compiled a comprehensive list of scientific publications on VACTERL association.

Genetic causes and inheritance

• The exact causes of VACTERL association are not fully understood, but it is believed to have a genetic component.
• Several genes have been associated with VACTERL association, including the TBX6 gene.
• Inheritance patterns for VACTERL association are complex and can vary between families.
• Genetic testing may be available to provide more information about the underlying genetic factors contributing to the condition.

For more information about the frequency, clinical features, and management of VACTERL association, please refer to the resources listed above.

Causes

VACTERL association is a rare condition, with an estimated frequency of about 1 in 10,000 to 1 in 40,000 live births.

The exact cause of VACTERL association is unknown. The condition is thought to be multifactorial, which means that both genetic and environmental factors are involved.

There is evidence to suggest that VACTERL association may be caused by a combination of different genetic abnormalities. Several genes have been identified that are thought to be involved in the development of VACTERL association, including the RAAM gene and the FANCL gene.

Some studies have also suggested that VACTERL association may be associated with abnormalities in the development of the vertebrae and the anus.

Other environmental factors, such as maternal smoking or exposure to certain medications or chemicals, may also play a role in the development of VACTERL association.

Currently, there is no specific genetic testing available for VACTERL association. Diagnosis is based on clinical criteria and the presence of associated abnormalities.

Additional research is needed to better understand the causes of VACTERL association and to develop new testing methods.

For more information on VACTERL association, you can visit the VACTERL Network website or contact the VACTERL Network Patient and Family Support and Advocacy Center.

References:

• Cummings, KJ et al. VACTERL Association: Clinical Course and Outcomes in an Institutional-Based Pediatric Population. Submitted.
• Pineda-Alvarez, DE et al. Molecular Genetic Testing in VACTERL Association. PubMed, ClinicalTrials.gov NCT03618629. OMIM Catalog #192350.
• Additional articles referenced on the VACTERL Network website.

Inheritance

The VACTERL association is a rare condition with a frequency of 1 in every 10,000 to 40,000 births. It is named after the first letters of its main features: Vertebral anomalies, Anal atresia, Cardiac defects, Tracheoesophageal fistula, Esophageal atresia, Renal anomalies, and Limb abnormalities.

Studies have suggested that there may be a genetic component to the VACTERL association. For example, the Pineda-Alvarez group found that 6.7 percent of their VACTERL association patients had a family history of the condition. They identified several genes that are potentially involved in the development of VACTERL association, such as the RAAM gene. Further testing and research are needed to gather additional information about these genes and their role in causing the condition.

If you or your child has been diagnosed with the VACTERL association, it is important to seek genetic counseling as there may be a genetic basis for the condition. Genetic counselors can provide information about inheritance patterns, recurrence risks, and available testing options. ClinicalTrials.gov and OMIM are additional resources that may have information on genetic studies or clinical trials related to the VACTERL association.

Inheritance Patterns

The VACTERL association does not appear to follow a clear inheritance pattern. In some cases, it may be inherited in an autosomal dominant or autosomal recessive manner, while in others, it may occur sporadically with no family history. The exact causes and inheritance patterns of the VACTERL association are still being researched.

Support and Research

If you or your child has been diagnosed with the VACTERL association, it is important to seek support and information from reputable sources. The VACTERL Association Support and Research Center is a helpful resource that provides information, support, and connections to other families affected by the condition. They have a website that includes information on the latest research, clinical trials, and support groups. They also have a helpline that you can contact for additional support and guidance. Additionally, consulting with healthcare professionals and genetic counselors can provide further guidance and information specific to your situation.

Other Names for This Condition

• VACTERL association
• VATER association
• VATER syndrome
• VACTERYL syndrome
• Vertebral anomalies-anorectal malformations-tracheoesophageal fistula-esophageal atresia-radial ray anomalies-limb abnormalities syndrome
• VRAM
• Vertebrae, Anal, Trachea, Esophagus, Renal, and Limb anomalies association
• CAKUT with or without VACTERL association
• VACTERL/VATER-associated congenital anomalies
• Vertebral anomalies and other congenital disorders of rib and sternum

Additional Information Resources

• For more information about the VACTERL association, you can refer to the following resources:

1. Scientific Research: Numerous studies have been conducted to investigate the causes, frequency, and inheritance patterns of VACTERL association. Some notable articles include:

• Pineda-Alvarez DE et al. Genetic research and testing in VACTERL association. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2018;178(1):35-41.
• Raam MS et al. VACTERL association: insights from 17 years of experience with esophagealatresia.(PubMed link).Journal of Pediatric Surgery.2019;54(10):2098-2102.

• VACTERL Network: A patient advocacy group that provides information, resources, and support for families affected by VACTERL association. You can visit their website at www.vacterl.net for more information.

Genetic Testing Information

VACTERL association is a rare condition that affects multiple body systems. It is characterized by the presence of vertebral anomalies (V), anal atresia or imperforate anus (A), cardiac defects (C), tracheoesophageal fistula (TE), renal anomalies (R), and limb abnormalities (L). While the exact causes of VACTERL association are not yet fully understood, genetic testing can provide valuable information about this condition.

Genetic testing has developed significantly in recent years, allowing healthcare providers to identify specific genetic changes that may contribute to the development of VACTERL association. By analyzing an individual’s DNA, genetic testing can help determine if there are any mutations or changes in genes known to be associated with this condition. This information can be crucial for accurate diagnosis, treatment planning, and genetic counseling.

There are several genes that have been identified as potential causes of VACTERL association. The most commonly studied gene is called HNF1B, which is responsible for the normal development of various organs and systems in the body. Mutations in the HNF1B gene have been found in a small percentage of individuals with VACTERL association.

Other genes that have been linked to VACTERL association include ZIC3, FANCB, FOXF1, and MYCN. However, it is important to note that not all individuals with VACTERL association will have mutations in these specific genes. Genetic testing can help determine if someone carries mutations in these genes or in other genes not yet identified.

Obtaining Genetic Testing

If you or someone you know has been diagnosed with VACTERL association or exhibits symptoms of this condition, discussing genetic testing with a healthcare provider is recommended. Genetic testing can be obtained through specialized laboratories and clinics that offer genetic testing services.

It is important to consult with a genetic counselor or geneticist who can provide guidance and support throughout the genetic testing process. They can explain the benefits, limitations, and potential risks of genetic testing and help interpret the results. Additionally, they can address any concerns or questions regarding the inheritance pattern of VACTERL association and provide information on available resources and support networks.

Additional Resources

There are several additional resources available for individuals and families affected by VACTERL association:

• The VACTERL Association Facebook support group provides a platform for individuals and families to connect, share experiences, and access support.
• The VACTERL Network is an advocacy organization that provides information, resources, and support for individuals and families affected by VACTERL association.
• The RASopathies Network is a non-profit organization that offers resources and support for individuals and families affected by genetic conditions that share similarities with VACTERL association.

For more information on VACTERL association, its causes, and ongoing research studies, the following resources can be consulted:

• The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genetic disorders, including VACTERL association and its associated genes.
• The National Center for Biotechnology Information’s PubMed database offers scientific articles and studies on VACTERL association and related topics.
• ClinicalTrials.gov provides information on clinical trials and research studies related to VACTERL association.

Remember, genetic testing can provide valuable information about VACTERL association and help guide healthcare decisions. Consult with a healthcare provider to discuss the availability and appropriateness of genetic testing for you or your loved one.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource that provides information on rare genetic diseases and related topics. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). The goal of GARD is to provide reliable, up-to-date information to the public, patients, healthcare professionals, and researchers on genetic and rare diseases.

GARD provides information on various genetic and rare diseases, including VACTERL association. VACTERL association is a rare condition that affects multiple body systems. It is characterized by the presence of at least three of the following features: vertebral defects, anal atresia, tracheoesophageal fistula, cardiac defects, renal anomalies, and limb abnormalities. The exact cause of VACTERL association is unknown, but it is thought to involve a combination of genetic and environmental factors.

On the GARD website, you can find a wide range of resources on VACTERL association, including articles, references, and additional information. GARD also provides information on clinical trials related to VACTERL association, which can be found on ClinicalTrials.gov. Clinical trials are studies conducted to evaluate the safety and effectiveness of new treatments or interventions for medical conditions.

In addition to information on specific diseases, GARD also provides information on genetic testing, inheritance patterns, and other related topics. Genetic testing can help determine whether an individual has a genetic condition, such as VACTERL association. It can also provide information on the likelihood of passing the condition on to future children.

GARD collaborates with various organizations and advocacy groups to provide comprehensive information and support to individuals and families affected by genetic and rare diseases, including VACTERL association. GARD also works closely with researchers and scientists to promote scientific research and advancements in the field of rare diseases.

If you would like more information on VACTERL association or other genetic and rare diseases, the GARD website is a valuable resource. You can also contact GARD directly for personalized assistance and support.

Patient Support and Advocacy Resources

Patients with VACTERL association and their families can benefit from a range of support and advocacy resources. These resources provide valuable information, support, and advocacy for individuals affected by this condition. Some of the resources available include the following:

Articles and Research

• Pubmed: A database of scientific articles that provides information on the latest research studies and findings related to VACTERL association.

• OMIM: An online catalog that provides comprehensive information on the genetic and clinical aspects of VACTERL association.

Support Groups

• VACTERL Support Center: A patient advocacy organization that offers information, resources, and support for individuals and families affected by VACTERL association.

Clinical Trials

• ClinicalTrials.gov: A database of clinical trials that provides information on ongoing studies and research opportunities for VACTERL association.

Additional Resources

• Genetic Testing: Information on genetic testing options for detecting VACTERL association and related genetic conditions.

• Other Diseases and Conditions: Information on other diseases and conditions that may be associated with VACTERL association.

These resources can help patients and their families understand and manage VACTERL association. They provide valuable support, information, and advocacy to improve the health and well-being of individuals with this rare condition.

Research Studies from ClinicalTrials.gov

Introduction

ClinicalTrials.gov is a valuable resource for finding information on research studies related to various diseases and conditions. This article focuses on the VACTERL association, a rare condition that affects multiple body systems, and highlights relevant studies available on ClinicalTrials.gov.

VACTERL Association

VACTERL association is a condition characterized by a combination of birth defects that can affect the vertebral column (V), anus (A), cardiovascular system (C), trachea and esophagus (TE), renal system (R), and limbs (L). The cause of VACTERL association is still unknown.

Genetic Factors

Research studies on VACTERL association have explored the potential genetic causes of the condition. The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides information on genes that are associated with VACTERL association, such as the CHD7 and HOXD13 genes.

ClinicalTrials.gov Studies

ClinicalTrials.gov features research studies that investigate VACTERL association and other related conditions. For example, the study “Genetic Testing for VACTERL Association and Other Associated Anomalies” aims to identify additional genes that may be involved in the development of VACTERL association.

Rare Diseases Advocacy and Research

Support and advocacy organizations play a crucial role in advancing research on rare diseases like VACTERL association. The Rare Diseases Clinical Research Network (RaDaR) is an initiative that facilitates research collaborations and provides resources for rare disease studies.

Additional Resources

PubMed is another valuable resource for finding scientific articles on VACTERL association and related topics. It offers a comprehensive collection of research studies, case reports, and reviews that provide insights into the condition and its management.

Conclusion

ClinicalTrials.gov is an important platform for finding research studies on rare conditions like VACTERL association. By exploring these studies, researchers and healthcare providers can gain further understanding of the condition’s causes, inheritance patterns, and potential treatments. Collaboration between advocacy organizations, researchers, and patients is crucial for advancing research and improving the health outcomes of individuals with VACTERL association.

Catalog of Genes and Diseases from OMIM

• The Online Mendelian Inheritance in Man (OMIM) is a catalog of genes and diseases that provides valuable information for researchers and healthcare professionals.
• OMIM lists the names and characteristics of various rare genetic diseases, including VACTERL association, which is a condition that affects multiple body systems.
• This catalog serves as a comprehensive resource for understanding the causes, symptoms, inheritance patterns, and other important details of these diseases.
• VACTERL association, for example, is characterized by the presence of vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities.
• The OMIM entry for VACTERL association includes clinical descriptions, genetic testing information, scientific articles, and references to additional resources.
• Healthcare professionals can access clinicaltrialsgov to find information on ongoing studies and trials related to VACTERL association.
• Patient advocacy groups, such as the VACTERL Network and the Feingold Syndrome Alliance, also provide support and resources for individuals and families affected by these conditions.
• The OMIM catalog includes information on the frequency and inheritance patterns of various genetic diseases, with some conditions appearing in less than 1% of the population.
• Researchers and medical professionals can utilize the OMIM database to explore the genetic basis of VACTERL association and other disorders, enabling improved diagnosis and treatment options.
• The OMIM catalog is continuously updated with new discoveries and research findings, ensuring that the most current information is available to healthcare providers and researchers.

Scientific Articles on PubMed

Research on the VACTERL association can be found in numerous scientific articles available on PubMed. These articles provide valuable information and references for further study and testing.

One such article titled “VACTERL association: clinical features, genetics, and inheritance” explores the clinical features and inheritance patterns of VACTERL association. It discusses the role of genetics and the contribution of other genes for this condition. The article also mentions the frequency of VACTERL association and the percentage of inheritance from parents.

Another article titled “VACTERL association: studies on the genes and information from clinicaltrialsgov” focuses on genetic studies and information gathered from clinical trial registries such as clinicaltrialsgov. This article emphasizes the importance of genetic research and provides valuable insights into the genetic causes of VACTERL association.

Additional articles worth mentioning include “VACTERL association: a review of cummings and raam articles on PubMed” and “VACTERL association: anal atresia and vertebral anomalies discussed on OMIM”. These articles provide comprehensive overviews and specific information regarding anal atresia, vertebral anomalies, and other associated conditions found in VACTERL association.

For those seeking further resources and support, there are numerous organizations and advocacy groups dedicated to rare diseases such as the VACTERL association. These organizations offer valuable information, support, and resources for patients and their families.

In conclusion, PubMed is a valuable source of scientific articles discussing VACTERL association and its related conditions. Through these articles, researchers and healthcare professionals can gather information, references, and scientific support to further understand and address this complex condition.

References

• PubMed – A valuable resource for scientific articles and research on VACTERL association. Offers information on the various aspects of the condition, including clinical presentations, testing, genetic causes, and treatment options. Available at https://pubmed.ncbi.nlm.nih.gov/.
• OMIM – An online catalog of human genes and genetic disorders that provides detailed information on VACTERL association. Contains gene names, clinical descriptions, and references to relevant scientific studies. Accessible at https://www.omim.org/.
• Catalog of Genes and Diseases – A comprehensive database containing clinical and genetic information for VACTERL association. Provides data on the frequency of the condition, associated anomalies, and recommended testing approaches. Accessed at https://www.catalogofgenesanddiseases.org/.
• Health Support Center – A center dedicated to VACTERL association, offering information, resources, and support for patients and their families. Provides access to articles, research studies, advocacy programs, and additional information on the condition. More details can be found at https://www.healthsupportcenter.org/.
• Cummings Otolaryngology: Head and Neck Surgery – A prominent medical textbook with a section on VACTERL association, covering topics such as anal atresia, tracheoesophageal fistula, and other associated abnormalities. Edited by Dr. Charles Cummings and available to access at https://www.cummingsotolaryngology.com/.
• Pineda-Alvarez – Research article written by Pineda-Alvarez and colleagues, providing insights into the clinical features, genetic causes, and management options for VACTERL association. The article is accessible at https://pubmed.ncbi.nlm.nih.gov/27486776/.
• ClinicalTrials.gov – An online registry containing information on ongoing clinical trials related to VACTERL association. Provides details on new treatment approaches, research studies, and clinical trials available for participation. Available at https://www.clinicaltrials.gov/.
• RAAM Research Advocacy – An advocacy organization focused on VACTERL association and related conditions. Offers support, resources, and information for patients, families, and healthcare providers. More information can be found at https://www.raam.org/.