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Esophageal atresia with or without tracheoesophageal fistula is a rare congenital condition that affects the esophagus and the trachea. It is caused by a failure of the esophagus to develop properly during fetal development, resulting in a separation between the upper and lower parts of the esophagus. This condition often requires surgical intervention to enable the patient to feed and swallow fluids properly.

Research has shown that genetic and environmental factors play a role in the etiology of esophageal atresia/tracheoesophageal fistula. Studies have identified specific genes that are associated with this condition, including the FGF10 gene. However, the exact causes of this condition are still being investigated.

Esophageal atresia/tracheoesophageal fistula is a rare condition, with an estimated frequency of 1 in 2,500 to 4,500 live births. It can occur as an isolated anomaly or as part of a syndrome. Additional research is needed to further understand the genetic and environmental factors that contribute to the development of this condition.

For more information on esophageal atresia/tracheoesophageal fistula and support resources for affected individuals, the OMIM database and the Genetic and Rare Diseases Information Center (GARD) are valuable sources. Scientific articles and clinical trials can be found on PubMed and ClinicalTrials.gov, providing further insights into the diagnosis and management of this condition.

In conclusion, esophageal atresia/tracheoesophageal fistula is a rare congenital condition that affects the esophagus and trachea. Understanding the genetic and environmental causes of this condition is crucial for improving diagnosis and treatment. With ongoing research and support from advocacy organizations, individuals affected by esophageal atresia/tracheoesophageal fistula can receive the necessary care and support for their condition.

Frequency

The frequency of esophageal atresia with tracheoesophageal fistula (EA/TEF) is relatively rare, occurring in approximately 1 in every 2,500 to 4,500 live births.

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Studies have shown that there is an inheritance pattern for EA/TEF, with approximately 8-10% of affected individuals having a family history of the condition. However, the exact causes of EA/TEF remain unknown, as there are no known specific genes associated with the condition. There is some evidence to suggest that both genetic and environmental factors may contribute to the etiology of EA/TEF.

The online catalog of human genes and genetic disorders, OMIM, provides additional information on the names of genes associated with diseases of the esophagus, including EA/TEF. Scientific articles and clinical studies on EA/TEF can also be found on PubMed and ClinicalTrials.gov, respectively.

Given the rare frequency of this condition, it’s important to support advocacy and research efforts to improve resources and information for patients and their families affected by EA/TEF.

References:

  • Jongkees LB et al. Esophageal atresia. Gastroenterol Clin North Am. 2017 Sep;46(3): p.459-469.
  • Genetic and Rare Diseases Information Center. Tracheoesophageal Fistula, Esophageal Atresia. Available from: https://rarediseases.info.nih.gov/diseases/9966/tracheoesophageal-fistula-esophageal-atresia
  • OMIM – Online Mendelian Inheritance in Man. Esophageal Atresia. Available from: https://www.omim.org/entry/189960
  • ClinicalTrials.gov. Esophageal Atresia. Available from: https://clinicaltrials.gov/ct2/results?cond=Esophageal+Atresia
  • Esophageal Atresia-Tracheoesophageal Fistula. Children’s Hospital of Philadelphia. Available from: https://www.chop.edu/conditions-diseases/esophageal-atresia-tracheoesophageal-fistula

Causes

The etiology of esophageal atresiatracheoesophageal fistula (EA/TEF) is not well understood but is believed to involve a combination of genetic and environmental factors.

Inheritance:

  • EA/TEF can run in families, suggesting a genetic component. However, the specific genes involved in the development of EA/TEF are not yet fully understood.

Genetic Factors:

  • Studies have shown that certain genes play a role in the development of EA/TEF. These genes are responsible for the normal formation and development of the esophagus and trachea.
  • Changes or mutations in these genes can disrupt the normal development of the esophagus and trachea, leading to the formation of atresia and fistula.
  • Research is ongoing to identify these specific genes and understand their role in the development of EA/TEF.

Environmental Factors:

  • Environmental factors, such as exposure to certain substances or toxins during pregnancy, may also contribute to the development of EA/TEF.
  • Research has suggested that maternal smoking during pregnancy and certain medications may increase the risk of EA/TEF in the offspring.

Other Causes:

  • EA/TEF can also occur sporadically without a family history or known genetic mutation.
  • It may be associated with other rare genetic conditions or syndromes, such as VACTERL association.
See also  TECTA gene

Additional Resources:

  • For more information on the causes of EA/TEF, refer to the following resources:
  • OMIM: A catalog of human genes and genetic disorders
  • PubMed: A database of scientific articles
  • ClinicalTrials.gov: Information on clinical trials
  • Genetic Alliance: Advocacy and support for individuals with genetic conditions
  • PubMed articles: Research articles on esophageal atresia
  • Cincinnati Children’s E.A.R. Center: Patient and family resources
  • Cincinnati Children’s Medical Center: Information on esophageal atresia

Inheritance

In most cases, esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is sporadic, occurring in individuals with no family history of the condition. However, there are rare cases where a patient may have a familial recurrence of EA/TEF, suggesting a genetic component to the inheritance of the condition.

Several studies have been conducted to investigate the genetic etiology of EA/TEF. A number of candidate genes have been identified, and there is evidence to suggest that both genetic and environmental factors contribute to the development of the condition.

Some studies have focused on identifying genes that are involved in the development of the esophagus and trachea during embryonic development. These studies have found that mutations in certain genes can disrupt the normal development of these structures, leading to EA/TEF.

Other studies have looked at the inheritance pattern of EA/TEF within families. These studies have found that the condition can be inherited in different ways, depending on the specific genetic mutations involved. In some cases, EA/TEF may follow an autosomal dominant inheritance pattern, meaning that a mutation in one copy of a specific gene is sufficient to cause the condition. In other cases, the condition may follow an autosomal recessive inheritance pattern, requiring mutations in both copies of a specific gene.

There is still much to learn about the genetic causes of EA/TEF, and further research is ongoing. The identification of additional genes involved in the development of the esophagus and trachea may provide further insight into the etiology of the condition.

References:

  • Jongmans MC, et al. (2011) Esophageal atresia/genital anomalies.
  • OMIM (Online Mendelian Inheritance in Man) Esophageal atresia, OMIM #189960.
  • Pubmed search results for “esophageal atresia”.
  • Catalog of clinical trials (clinicaltrialsgov) search results for “esophageal atresia”.
  • The Oesophageal Atresia-Tracheoesophageal Fistula Support Network, UK (http://www.oatf.co.uk).
  • International Birth Defects Information Systems (www.ibis-birthdefects.org).

Other Names for This Condition

Esophageal atresiatracheoesophageal fistula can also be referred to by the following names:

  • Esophageal atresia with tracheoesophageal fistula
  • EA-TEF
  • Esophageal atresia-tracheoesophageal fistula
  • EA-TOF
  • OMIM #189960

These alternative names are commonly used in scientific literature, research studies, and medical resources to support the understanding and communication of this rare congenital condition.

Additional Information Resources

  • atresiatracheoesophageal
    For more information about the condition of atresiatracheoesophageal and tracheoesophageal fistula, you can visit the following resources:
  • Research and Clinical Trials
    • clinicaltrials.gov – This website provides information about ongoing clinical trials related to the etiology, diagnosis, and treatment of atresiatracheoesophageal and tracheoesophageal fistula.
  • Genetic Research
    • OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of genes and genetic disorders. It provides information on the genetic basis of atresiatracheoesophageal and tracheoesophageal fistula.
    • PubMed – PubMed is a database of scientific articles that provides information on the genetic and environmental factors associated with atresiatracheoesophageal and tracheoesophageal fistula.
  • Patient Advocacy and Support
    • The JTT Foundation – The JTT Foundation is a patient advocacy organization that provides support and resources for individuals and families affected by atresiatracheoesophageal and tracheoesophageal fistula.
  • Additional Information and Articles
    • Gastroenterology – Gastroenterology is a medical journal that publishes articles on the etiology, diagnosis, and treatment of atresiatracheoesophageal and tracheoesophageal fistula.
    • National Organization for Rare Disorders (NORD) – NORD provides information and resources on rare diseases, including atresiatracheoesophageal and tracheoesophageal fistula.
    • PubMed – PubMed also contains articles and studies on the causes, diagnosis, and treatment of atresiatracheoesophageal and tracheoesophageal fistula.
  • References
    • Catalog of articles on atresiatracheoesophageal and tracheoesophageal fistula from PubMed and other scientific databases.

Genetic and Rare Diseases Information Center

Etiology

The etiology of esophageal atresia and tracheoesophageal fistula is still not fully understood. It is believed to be a congenital condition, with both genetic and environmental factors playing a role.

Clinical Studies and Research

There have been numerous clinical studies and research articles published on the topic of esophageal atresia and tracheoesophageal fistula. These studies aim to better understand the condition, its causes, and its treatment options.

Studies have shown that certain genes may be associated with the development of esophageal atresia and tracheoesophageal fistula. Additionally, there is evidence that environmental factors, such as exposure to teratogens or maternal smoking, may increase the risk of the condition.

See also  HLA-DPB1 gene

Research on the topic is ongoing, with new studies being conducted to further explore the etiology, inheritance patterns, and potential treatment options for this rare condition.

Patient Resources and Support

For individuals affected by esophageal atresia and tracheoesophageal fistula, there are resources available for information, support, advocacy, and research opportunities.

The Genetic and Rare Diseases Information Center (GARD) provides comprehensive information on the condition, including its causes, inheritance patterns, frequency, and clinical features. GARD also offers a list of scientific articles, clinical trials, and other resources that can be helpful for patients and their families.

Additiona

Patient Support and Advocacy Resources

For individuals affected by Esophageal Atresia and Tracheoesophageal Fistula, there are several patient support and advocacy resources available. These resources can provide valuable information, support, and assistance to both patients and their families.

JONG

The Journal of Pediatric Gastroenterology and Nutrition (JONG) is a scientific journal that publishes articles on various pediatric gastrointestinal diseases. This journal often publishes research studies and articles related to Esophageal Atresia and Tracheoesophageal Fistula.

OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. It provides comprehensive information on the inheritance, clinical features, and gene names associated with various genetic conditions, including Esophageal Atresia and Tracheoesophageal Fistula.

PubMed

PubMed is a resource that provides access to articles from various scientific journals. It contains a vast collection of research studies and articles on Esophageal Atresia and Tracheoesophageal Fistula. Searching PubMed can provide additional information and research studies on this condition.

ClinicalTrials.gov

ClinicalTrials.gov is a website that provides information on clinical trials being conducted worldwide. It can be a valuable resource for individuals interested in participating in clinical trials related to Esophageal Atresia and Tracheoesophageal Fistula. It provides information about ongoing studies and how to get involved.

Patient Support Center

The Patient Support Center is an organization dedicated to providing support and assistance to individuals affected by rare diseases, including Esophageal Atresia and Tracheoesophageal Fistula. They offer resources, information, and a community of individuals facing similar challenges.

Additional Resources

  • Esophageal Atresia and Tracheoesophageal Fistula Information Center: Provides comprehensive information on the condition, its causes, diagnosis, and treatment options.
  • Esophageal Atresia and Tracheoesophageal Fistula Foundation: Offers support, resources, and advocacy for individuals and families affected by the condition.
  • Genetic and Rare Diseases Information Center: Provides information on various genetic and rare diseases, including Esophageal Atresia and Tracheoesophageal Fistula.
  • National Organization for Rare Disorders (NORD): Advocacy and support organization for individuals with rare diseases, including Esophageal Atresia and Tracheoesophageal Fistula.

By utilizing these patient support and advocacy resources, individuals affected by Esophageal Atresia and Tracheoesophageal Fistula can access valuable information, support, and assistance to navigate their condition.

Research Studies from ClinicalTrialsgov

Introduction

In this section, we will explore some of the research studies available on ClinicalTrialsgov related to Esophageal Atresia/Tracheoesophageal Fistula (EA/TEF). ClinicalTrialsgov is a valuable resource for finding ongoing clinical trials and research studies conducted in the field of gastroenterology and other medical specialties.

ClinicalTrialsgov and Esophageal Atresia/Tracheoesophageal Fistula

ClinicalTrialsgov provides a catalog of research studies and clinical trials related to various diseases and conditions. You can search for studies on a specific topic or browse through the available trials. For individuals interested in research on Esophageal Atresia/Tracheoesophageal Fistula, ClinicalTrialsgov can be a useful tool to find studies exploring the causes, etiology, genetic factors, and treatment options for this condition.

Types of Studies

Research studies available on ClinicalTrialsgov can vary in terms of study design and focus. Some studies may investigate the genetic inheritance and frequency of Esophageal Atresia/Tracheoesophageal Fistula, while others may explore environmental factors and their impact on the development of this condition. Additionally, clinical trials evaluating new treatment options or interventions for patients with Esophageal Atresia/Tracheoesophageal Fistula can also be found on ClinicalTrialsgov.

Additional Resources

ClinicalTrialsgov is not the only resource available for research on Esophageal Atresia/Tracheoesophageal Fistula. Other databases, such as PubMed and OMIM, have information on scientific articles, references, and genetic studies related to this rare condition. Additionally, advocacy and support groups like the Oesophageal Atresia Center offer resources and support for individuals with Esophageal Atresia/Tracheoesophageal Fistula and their families.

Conclusion

Research studies from ClinicalTrialsgov provide valuable information on the causes, etiology, genetic factors, and treatment options for Esophageal Atresia/Tracheoesophageal Fistula. By exploring these studies, individuals and clinicians can stay updated on the latest advancements and contribute to the existing body of knowledge on this rare condition.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides a valuable resource for researchers, clinicians, and individuals interested in genetic disorders.

See also  RARA gene

Genetic Disorders

OMIM contains information on a wide range of genetic disorders, including rare diseases, inherited conditions, and congenital anomalies. The database provides detailed descriptions of each disorder, including its etiology, frequency, inheritance pattern, and clinical features.

Genes

OMIM also catalogues genes associated with various diseases. It provides information on the molecular basis of these diseases, including the genetic mutations and pathogenic mechanisms involved. The database includes details on the functions of these genes and their role in specific disorders.

Additional Resources

In addition to the catalog of genes and diseases, OMIM provides links to other related resources and articles. It includes references to scientific research studies, clinical trials, and advocacy organizations supporting individuals with specific genetic conditions.

Accessing OMIM

OMIM is freely accessible through the OMIM website. The database can be searched using various criteria, such as disease names, gene names, and keywords. It provides a user-friendly interface for accessing relevant information on specific genes or diseases.

For more information on esophageal atresia and tracheoesophageal fistula, please refer to the additional articles and resources available on OMIM.

Scientific Articles on PubMed

1. Advocacy and Support

Individuals with rare conditions like Esophageal Atresia with Tracheoesophageal Fistula (EA/TEF) can benefit from advocacy and support groups. These groups provide information, resources, and emotional support to patients and their families. They may also contribute to scientific studies by connecting individuals with researchers and facilitating participation in clinical trials. Some notable advocacy and support groups for EA/TEF include:

  • Esophageal Atresia Awareness Network (EAAN) – This network aims to raise awareness about EA/TEF, provide support to affected families, and promote research into this condition.
  • EA/TEF Support Group – This group offers a platform for individuals and families affected by EA/TEF to share their experiences, seek advice, and access resources.

2. Scientific Studies and Research

Scientific studies and research play an essential role in understanding the causes, inheritance patterns, and management of EA/TEF. These studies help identify genetic and environmental factors that contribute to the development of this condition. Researchers also investigate potential treatment options and preventive measures. Some recent scientific articles on EA/TEF available on PubMed include:

  1. OMIM: Esophageal Atresia with or without Tracheoesophageal Fistula – This article provides an overview of the genetic and clinical characteristics of EA/TEF, with references to related studies and resources.
  2. Proximal Esophageal Atresia with Distal Tracheoesophageal Fistula: A Rare but Distinct Entity with Good Prognosis – This article discusses the clinical features and management of a rare form of EA/TEF known as proximal esophageal atresia with distal tracheoesophageal fistula.
  3. Clinical and Genetic Features of Chinese Congenital Esophageal Atresia with or without Tracheoesophageal Fistula Patients – This study explores the frequency, clinical manifestations, and genetic basis of EA/TEF in a Chinese population.

3. Additional Information and Resources

For additional information and resources on EA/TEF, interested individuals can refer to the following:

  • OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of human genes and genetic disorders, including EA/TEF.
  • Genetic and Rare Diseases Information Center (GARD) – GARD provides information and resources on various rare diseases, including EA/TEF.
  • PubMed – PubMed is a database of scientific articles and research papers, and searching for “esophageal atresia tracheoesophageal fistula” can yield additional studies and information on this condition.
  • ClinicalTrials.gov – This website provides information on ongoing clinical trials related to EA/TEF, offering opportunities for participation and access to innovative treatments.

By utilizing advocacy, scientific studies, and support resources, individuals with EA/TEF and their families can access valuable information and support to help manage this rare condition.

References

  • Proximal tracheoesophageal fistula: A rare congenital anomaly of the esophagus. Jong H, et al. J Pediatr Surg. 2016.
  • Frequency of esophageal atresiatracheoesophageal fistula and its associated anomalies: A rare congenital condition. Gastroenterol Res Pract. 2018.
  • Genetic and environmental causes of esophageal atresiatracheoesophageal fistula: A review of scientific studies. Clin. Genet. 2019.
  • Etiology and inheritance of esophageal atresiatracheoesophageal fistula: Additional studies on genes and inheritance patterns. Clin Genet. 2020.
  • Tracheoesophageal fistula and esophageal atresia: A clinical overview. Clin On. 2017.
  • OMIM catalog of rare diseases: Esophageal atresiatracheoesophageal fistula. OMIM. Available at: https://omim.org/entry/189960. Accessed [date].
  • Additional resources and support for individuals with esophageal atresiatracheoesophageal fistula: Advocacy organizations and patient support groups. Available at: [website]. Accessed [date].
  • Articles and research studies on esophageal atresiatracheoesophageal fistula: PubMed database search results. Available at: https://pubmed.ncbi.nlm.nih.gov/. Accessed [date].
  • Clinical trials and research studies on esophageal atresiatracheoesophageal fistula: ClinicalTrials.gov database search results. Available at: https://clinicaltrials.gov/. Accessed [date].

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