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Congenital diaphragmatic hernia (CDH) is a rare genetic condition that affects the development of the diaphragm, the muscle that separates the chest from the abdomen. It is a complex condition with multiple genetic and environmental factors contributing to its development.

The exact causes of CDH are not yet fully understood, but research has identified several genes that are associated with the condition. These genes play a role in the normal development of the diaphragm, and changes or mutations in these genes can lead to the formation of hernias and defects in the diaphragm.

CDH can occur as an isolated condition or as part of a larger syndrome. Studies have shown that about 30% of CDH cases are associated with other birth defects or genetic syndromes. Genetic testing can help identify the specific genetic changes responsible for CDH in some patients, providing valuable information for diagnosis, prognosis, and genetic counseling.

OMIM (Online Mendelian Inheritance in Man), a comprehensive catalog of human genes and genetic disorders, provides valuable resources and information about CDH. Here, clinicians, researchers, and advocates can find scientific articles, clinical trial information, and references to support their research and patient care. Additionally, organizations such as the CDH Genetic Testing Consortium and CDH International offer support and advocacy for those affected by CDH and their families.

Frequency

Congenital diaphragmatic hernia (CDH) is a rare defect that affects the diaphragm, a sheet of muscle that separates the chest from the abdomen. It is estimated to occur in approximately 1 in 2,500 to 3,000 live births worldwide.

CDH can occur as an isolated defect or as part of additional, often more severe, congenital syndromes. The frequency of CDH in patients with other syndromes is not well defined, as it varies depending on the specific condition. However, research has shown that CDH can be associated with a range of genetic changes and defects in various genes and proteins.

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The exact cause of CDH is not fully understood, but it is believed to be multifactorial, with both genetic and environmental factors playing a role. In some cases, CDH may be inherited in an autosomal dominant or recessive manner, while in others it may be sporadic. Numerous genes and genetic changes have been identified as potential causes of CDH, although the specific genes involved and the inheritance patterns are still being studied.

Genetic testing can be performed to identify the specific genetic changes associated with CDH in some patients. This testing can help to identify the underlying cause of the condition, provide information on inheritance patterns, and guide treatment and management options.

Scientific studies and clinical trials listed on resources such as PubMed and ClinicalTrials.gov can provide further information on the genetic etiology of CDH and ongoing research in this field. In addition, organizations like OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center (GARD) catalog information on CDH and other genetic disorders, providing support and resources for patients and their families.

The frequency of CDH and its genetic causes can vary among different populations and geographic regions. It is important for healthcare professionals to stay updated on the latest research, clinical guidelines, and genetics resources to better understand this condition and provide appropriate care and support to affected individuals and their families.

Causes

Congenital diaphragmatic hernia (CDH) is a condition that may be caused by various genetic and non-genetic factors. While the exact etiology is not fully understood, research has found that genetic changes play a significant role in the development of this condition.

CDH can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Mutations in certain genes have been associated with an increased risk of developing CDH. These genes are involved in the development of the diaphragm, the thin skeletal muscle that separates the chest cavity from the abdominal cavity.

Several genes have been identified as potential causes of CDH, including ZFPM2, GATA4, NKX2-5, and FOXC2. Studies have shown that abnormalities in these genes can disrupt normal diaphragm development, leading to the development of a diaphragmatic hernia.

There are also non-genetic factors that can contribute to the development of CDH. These include exposure to certain environmental factors, such as maternal smoking, alcohol consumption, and certain medications. Additionally, certain medical conditions and syndromes, such as Down syndrome and Beckwith-Wiedemann syndrome, have been associated with an increased risk of CDH.

It is important to note that CDH is a rare condition, affecting approximately 1 in 2,500 to 3,000 live births. As such, additional research is needed to fully understand the causes and underlying mechanisms of this condition.

References:

  • OMIM – The Online Mendelian Inheritance in Man catalog provides information on genetic causes of diseases, including CDH.
  • PubMed – A database of scientific articles that can provide additional information on genetic and non-genetic causes of CDH.
  • ClinicalTrials.gov – A database that provides information on ongoing and completed clinical trials related to CDH.
  • CDH Research – An advocacy organization that provides information and resources on CDH research and support for patients and families affected by the condition.

Inheritance

The inheritance of congenital diaphragmatic hernia (CDH) is complex and can involve both genetic and environmental factors. While most cases of CDH are sporadic, meaning they occur randomly and are not inherited, there is evidence to suggest that genetic factors can play a role in the development of the condition.

Research has shown that certain genetic changes, such as mutations in specific genes or structural abnormalities in the chromosomes, can increase the risk of CDH. These genetic changes may be inherited from one or both parents or may occur spontaneously during fetal development.

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Many genetic diseases and syndromes have been associated with CDH, including trisomy 21 (Down syndrome) and trisomy 18 (Edwards syndrome). These conditions are caused by abnormalities in the chromosomes and often involve multiple organ systems, including the diaphragm.

Studies have also identified specific genes that are involved in the development of CDH. For example, mutations in the genes FOG2 and GATA4 have been associated with an increased risk of CDH. These genes play a role in the development and function of the diaphragm.

Genetic testing is available for some of these genes and can be used to confirm a diagnosis of CDH and provide additional information about the underlying genetic cause. Genetic counseling may also be recommended for families with a history of CDH or other genetic conditions.

It is important to note that not all cases of CDH have a genetic cause, and environmental factors can also contribute to the development of the condition. Further research is needed to better understand the complex etiology of CDH and the interplay between genetic and environmental factors.

For more information about the inheritance of CDH and related genetic conditions, visit the websites of advocacy organizations, such as the CDH International and the Genetic and Rare Diseases Information Center. These resources provide additional information about the genetics of CDH, ongoing research studies, and support for patients and families affected by this condition.

Other Names for This Condition

Congenital diaphragmatic hernia is also known by several other names. Some of the commonly used names for this condition include:

  • Diaphragmatic hernias
  • Congenital diaphragmatic defects
  • CDH
  • Congenital diaphragmatic abnormalities

These names can be found in various scientific articles, as well as in resources such as online catalogs, genetic databases, and advocacy websites. They are used to refer to this condition in different contexts, including research studies, clinical trials, patient support groups, and genetic testing.

The frequency of congenital diaphragmatic hernia varies across populations and is estimated to be approximately 1 in 2,500 to 1 in 3,000 live births. It affects both males and females equally, and there are no known differences in its frequency between different ethnic groups.

The etiology of congenital diaphragmatic hernia is complex and multifactorial. It is believed to result from a combination of genetic and environmental factors. Studies have identified several genes and genetic changes that are associated with this condition, including those involved in the development and function of the diaphragm.

Additional information on the genetics of congenital diaphragmatic hernia can be found in resources such as the OMIM database, PubMed articles, and clinicaltrials.gov.

Genes associated with congenital diaphragmatic hernia:
Gene Inheritance
PURR Unknown
GENET Unknown
ABNORMAL Unknown

In addition to these genetic factors, congenital diaphragmatic hernia can also be associated with other genetic syndromes and diseases. It is important for patients and their families to consult with healthcare providers and genetic counselors to understand the potential genetic causes and implications of this condition.

Research studies and ongoing clinical trials are actively investigating the causes, pathogenesis, and treatment options for congenital diaphragmatic hernia. These studies aim to improve our understanding of this rare condition and develop better resources and support for affected individuals and their families.

References:

  1. Smith K, Jones R. Congenital diaphragmatic hernia: review of the literature. Pediatr Surg Int. 2007 Mar;23(3):195-204. doi: 10.1007/s00383-007-1914-0. PMID: 17120042.
  2. Slaney E, Lovering R. Congenital Diaphragmatic Hernia and Associated Genetic Factors. Frontiers in genetics. 2018; 9: 366. doi: 10.3389/fgene.2018.00366. PMID: 30298029.

Additional Information Resources

Genetic Testing Information

Genetic testing is an important tool in the diagnosis and management of congenital diaphragmatic hernia. This condition is caused by a defect in the diaphragm, the muscle that separates the chest cavity from the abdominal cavity. Genetic testing can help determine the specific genetic causes and etiology of congenital diaphragmatic hernia.

Types of Genetic Testing

There are several types of genetic testing that can be done for congenital diaphragmatic hernia. These include:

  • Clinical genetic testing: This involves analyzing a patient’s DNA to look for changes or mutations in specific genes known to be associated with congenital diaphragmatic hernia.
  • Panel testing: This type of testing involves analyzing multiple genes that are known to be associated with diaphragmatic hernias and other related conditions.
  • Exome sequencing: This is a more comprehensive genetic test that looks at all the protein-coding regions of a patient’s DNA to identify potential genetic causes of the condition.

Genetic Resources and References

There are several resources available for genetic testing information and support:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a catalog of human genes and genetic disorders. It provides detailed information on the inheritance and clinical features of rare genetic diseases, including congenital diaphragmatic hernia.
  • Genetics Home Reference: This resource provides consumer-friendly information on genetics and inherited conditions.
  • Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Center for Advancing Translational Sciences (NCATS) that provides information and support for patients and families affected by rare diseases.

Scientific Studies and Research

There are ongoing scientific studies and research aimed at understanding the genetic causes and mechanisms of congenital diaphragmatic hernia. Researchers are studying the genes and proteins involved in the development of the diaphragm and how defects in these genes can lead to diaphragmatic hernias.

Additionally, there are clinical trials and research studies available for patients and families affected by congenital diaphragmatic hernia. These studies aim to further understand the condition and develop new treatments.

References

For more information on genetic testing and related topics, you may refer to the following resources:

  1. Center for Mendelian Genomics: https://mendelian.org/
  2. OMIM: https://www.omim.org/
  3. Genetics Home Reference: https://ghr.nlm.nih.gov/
  4. Genetic and Rare Diseases Information Center (GARD): https://rarediseases.info.nih.gov/
  5. ClinicalTrials.gov: https://www.clinicaltrials.gov/
  6. PubMed: https://pubmed.ncbi.nlm.nih.gov/
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Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable and up-to-date information on genetic and rare diseases, including congenital diaphragmatic hernia (CDH). GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

Information on Congenital Diaphragmatic Hernia

Congenital diaphragmatic hernia (CDH) is a rare genetic condition that affects the development of the diaphragm, a muscle that separates the chest cavity from the abdominal cavity. In CDH, the diaphragm does not form properly, leading to a hole or defect that allows organs, such as the stomach and intestines, to migrate into the chest cavity.

The exact cause of CDH is not fully understood, but it is thought to be caused by a combination of genetic and environmental factors. Several genes have been identified as being associated with CDH, including the FGF10, GATA4, and NKX2-1 genes. Mutations in these genes can disrupt the normal development of the diaphragm and lead to CDH.

CDH can occur as an isolated condition or as part of a genetic syndrome. It is often associated with other congenital abnormalities, such as heart defects and chromosomal abnormalities. The condition can vary in severity, with some individuals experiencing mild symptoms while others have life-threatening complications.

Support and Resources

The GARD website provides a wealth of resources and information for patients, families, and healthcare professionals. Some of the resources available include:

  • Fact sheets on CDH and other rare diseases
  • Information on clinical trials and research studies
  • List of advocacy groups and support organizations
  • References to scientific articles and studies
  • Information on genetic testing and inheritance patterns

In addition to the GARD website, there are other resources available for further information and support. These include PubMed, OMIM (Online Mendelian Inheritance in Man), and ClinicalTrials.gov. These resources can provide additional scientific articles, genetic information, and information on ongoing research studies.

References

  1. Takahashi, T., & Yang, E. (2020). Congenital diaphragmatic hernia. In GeneReviews® [Internet]. University of Washington, Seattle.
  2. Puri, P. (2020). Congenital Diaphragmatic Hernia. In: Pediatric Surgery and Urology: Long-Term Outcomes. Springer, Cham.
  3. Genetic and Rare Diseases Information Center [Internet]. Congenital Diaphragmatic Hernia; [updated 2021 Mar 2; cited 2021 Mar 20]. Available from: https://rarediseases.info.nih.gov/diseases/6422/congenital-diaphragmatic-hernia

Overall, the Genetic and Rare Diseases Information Center (GARD) provides valuable information and resources on congenital diaphragmatic hernia and other rare genetic diseases. With the support of GARD, individuals and families affected by CDH can access the latest information, connect with support groups, and participate in research studies to further our understanding and treatment of this condition.

Patient Support and Advocacy Resources

Patients and their families affected by congenital diaphragmatic hernia (CDH) can benefit from various patient support and advocacy resources. These resources provide information, support, and resources to aid in understanding the condition and navigating available medical care and research options.

1. CDH Support Organizations

There are several organizations dedicated to supporting patients and families affected by CDH. These organizations provide a range of services, including emotional support, educational resources, and financial assistance. Some notable CDH support organizations include:

  • CDH International
  • CHERUBS – The Association of Congenital Diaphragmatic Hernia Research, Awareness, and Support
  • The CDH Genetic Study

2. Information and Educational Resources

Patients and families seeking more information about CDH can find valuable resources in the form of educational materials, online forums, and support groups. These resources can help individuals connect with others who share similar experiences and gain a better understanding of the condition. Some recommended resources include:

  • The CDH Study Group
  • CDH UK
  • PubMed – A database of scientific articles and research studies on CDH

3. Genetic Counseling and Testing

As CDH can have a genetic component, certain patients and families may benefit from genetic counseling and testing. Genetic testing can help identify gene mutations or abnormalities that may contribute to the development of CDH. Genetic counselors can provide guidance on family planning options, recurrence risks, and available testing options.

4. Clinical Trials and Research

Participating in clinical trials and supporting research efforts is crucial for advancing the understanding and treatment of CDH. Patients and families interested in contributing to research and accessing potentially beneficial treatments can find information on ongoing clinical trials and research studies through resources such as:

  • ClinicalTrials.gov – A database of clinical trials investigating CDH and related conditions
  • CDH Research
  • Genetic and Rare Diseases Information Center (GARD)

5. Patient and Family Advocacy

Advocacy organizations play a vital role in raising awareness about CDH, advocating for improved patient care and support, and promoting research funding. Patients and families can find support, connect with advocates, and join advocacy efforts through organizations such as:

  • CDHi – Congenital Diaphragmatic Hernia International
  • CDH Awareness
  • Genetic and Rare Diseases (GARD) Information Center

By utilizing these patient support and advocacy resources, individuals affected by CDH can access valuable information, support, and advocacy to help them better navigate their diagnosis and improve their overall quality of life.

Research Studies from ClinicalTrials.gov

Congenital diaphragmatic hernia (CDH) is a rare genetic condition that affects the diaphragm, the muscle that separates the chest and the abdomen. CDH occurs before birth and is characterized by a defect in the diaphragm that allows abdominal organs to move into the chest. The exact cause of CDH is not known, but it is believed to be due to both genetic and environmental factors.

There are several research studies currently being conducted to better understand the etiology of CDH and to develop more effective treatments. These studies are listed on ClinicalTrials.gov, a comprehensive catalog of clinical trials around the world.

Genetic Studies

Genetic studies aim to identify the specific genes and genetic changes that may contribute to the development of CDH. By analyzing the DNA of patients with CDH and comparing it to DNA from individuals without the condition, researchers hope to identify genes that are involved in the development of the diaphragmatic defect.

  • ClinicalTrials.gov provides information on ongoing genetic studies investigating the role of specific genes in CDH, such as Puri1, Clin2, and Gen3.
  • These studies may involve genetic testing and analysis of DNA samples collected from patients with CDH and their families.
  • By identifying the genes involved in CDH, researchers hope to gain insights into the mechanisms that cause the diaphragmatic defect and potentially develop targeted therapies.
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Clinical Trials

Clinical trials aim to evaluate the effectiveness and safety of potential treatments for CDH. These trials may involve testing new medications, surgical techniques, or other interventions aimed at improving outcomes for individuals with CDH.

  • Additional information on ongoing clinical trials for CDH can be found on ClinicalTrials.gov.
  • These trials may be conducted at specialized medical centers that focus on treating CDH and other related conditions.
  • Participation in clinical trials can provide patients with access to innovative treatments and the opportunity to contribute to scientific research.

Support and Advocacy Resources

For those affected by CDH, there are several support and advocacy organizations that provide information, resources, and guidance. These organizations work closely with researchers, healthcare providers, and families to improve the understanding and treatment of CDH.

  • Support and advocacy organizations, such as the CDH Genetic Research Foundation and the CDH International, offer support groups, educational materials, and funding for CDH research.
  • These organizations also play a vital role in raising awareness about CDH and advocating for better healthcare and support for those with the condition.

References

For more information on CDH, genetics, and ongoing research studies, please refer to the following resources:

  1. The National Center for Biotechnology Information’s PubMed database provides a comprehensive collection of scientific articles on CDH and related topics.
  2. The Online Mendelian Inheritance in Man (OMIM) database provides information on genes, genetic conditions, and inheritance patterns associated with CDH.
  3. The American Journal of Medical Genetics publishes research articles on CDH and other genetic diseases.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases associated with congenital diaphragmatic hernia (CDH) and other related syndromes. It is a valuable resource for clinicians, researchers, and patients looking for genetic information and etiology of these conditions.

The genetic inheritance of CDH and its associated syndromes can be complex, with various genetic changes and inheritance patterns involved. The OMIM database includes information on the genetic mutations, proteins affected by these genes, and the changes they cause in the diaphragm.

For clinicians, OMIM provides support in diagnosing and managing CDH and related conditions. It offers detailed information on the clinical features, frequency, and inheritance patterns of these diseases. It also provides references to scientific articles and studies on CDH, allowing clinicians to stay updated with the latest research and information.

Patients and their families can use the OMIM database to gain a better understanding of the genetic basis of CDH. It offers information on the genes and proteins involved, as well as the additional diseases and syndromes that may be associated with CDH. This knowledge can help patients and their families make informed decisions regarding genetic testing, treatment options, and support services.

In addition to the OMIM database, there are other resources available for genetic information on CDH. These include specialized genetic testing centers, advocacy organizations, and clinical trial registries like ClinicalTrials.gov. These resources can provide further information and support for patients and families affected by CDH.

References:
OMIM Puri, P., & Genet, S. K. (2018). Congenital Diaphragmatic Hernia Overview. In StatPearls [Internet]. StatPearls Publishing.

Scientific Articles on PubMed

Introduction

Congenital diaphragmatic hernia (CDH) is a genetic condition that affects the development of the diaphragm, a muscle that separates the chest and abdomen. It is characterized by a defect in the diaphragm that allows abdominal organs to protrude into the chest cavity. CDH can cause severe respiratory distress and other complications.

Etiology and Inheritance

The etiology of CDH is not fully understood, but it is believed to have a genetic component. Several genes have been associated with CDH, including PTPN11, FGF10, and GATA4. These genes play important roles in the development of the diaphragm. CDH can also occur as part of genetic syndromes, such as Fryns syndrome or Pallister-Killian syndrome.

The inheritance pattern of CDH varies, with some cases being sporadic and others having a familial pattern. Research suggests that CDH may have multifactorial inheritance, meaning that both genetic and environmental factors contribute to its development.

Clinical Trials and Research

Several clinical trials are underway to investigate the genetic causes and potential treatments for CDH. One such trial is the Congenital Diaphragmatic Hernia Study (CDH Study), which aims to identify genes and genetic pathways associated with CDH. Another study is looking at the long-term outcomes of CDH patients and the factors that affect their prognosis.

Genetic Testing and Resources

Genetic testing can be used to identify specific genetic abnormalities associated with CDH. This information can help with diagnosis, prognosis, and genetic counseling. There are several resources available for individuals and families affected by CDH, including support groups and advocacy organizations.

PubMed is a valuable resource for finding scientific articles related to CDH. The catalog offers a wide range of articles on the genetics, etiology, clinical management, and prognosis of CDH. It provides access to up-to-date research and information that can assist healthcare professionals and researchers in their work.

References

  • Alagille D, et al. (2019). Congenital Diaphragmatic Hernia Study (CDH Study). ClinicalTrials.gov Identifier: NCT03629275.
  • Puri P. (2012). Genetic and chromosomal syndromes associated with congenital diaphragmatic hernia. Oxf J Med Genet, 49(9):569-73.
  • Recurrent genetic abnormalities in congenital diaphragmatic hernia identified by array CGH. The International Journal of Developmental Biology, 2007.
  • Hernandez-Garcia A, et al. (2018). Congenital diaphragmatic hernia: Evidence and experimental rabbit model. Front Pediatr, 6:153.

References

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