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An abdominal wall defect, also known as a congenital abdominal wall defect, is a condition that occurs during the development of the fetus in the womb. It is a rare condition, with a frequency of about 1 in every 3,000 births. The precise causes of these defects are unknown, but it is believed to involve a combination of genetic and environmental factors.

During normal development, the abdominal wall closes around the 9th week of pregnancy, forming a protective barrier that supports the internal organs. However, in infants with abdominal wall defects, this closure does not occur properly, resulting in an opening in the abdominal wall. This allows the organs within the abdomen, such as the intestines, to protrude through the opening.

The severity of abdominal wall defects can vary. Some infants may have small, easily covered defects, while others may have larger defects that require immediate medical attention. The clinical presentation of these defects can also vary, with some infants experiencing no noticeable symptoms, while others may have complications such as intestinal obstruction or a higher risk of infection.

Diagnosing an abdominal wall defect usually involves a physical examination of the infant, along with additional tests such as ultrasound or MRI. Genetic testing may also be recommended to determine if there are any underlying genetic factors contributing to the condition. In some cases, additional imaging studies or blood tests may be necessary to assess the extent of the defect and any associated complications.

Treatment for abdominal wall defects typically involves surgery to repair the defect and return the displaced organs to their proper position. In some cases, additional surgeries may be needed to address any complications or to improve the cosmetic appearance of the abdomen. The long-term outlook for infants with abdominal wall defects can vary depending on the specific defect and any associated complications.

For more information about abdominal wall defects, you can visit resources such as OMIM, the National Institutes of Health’s genetic and rare diseases information center, or scientific articles on PubMed. Additionally, advocacy organizations may provide support and resources for patients and their families affected by this condition. Ongoing research and clinical trials are also being conducted to better understand the causes and develop improved diagnostic and treatment options for abdominal wall defects.

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Frequency

The frequency of abdominal wall defect varies among infants and is influenced by both genetic and scientific factors. It is estimated that this condition occurs in 1 out of every 2,000 to 5,000 live births.

The exact causes of abdominal wall defects are still unknown, although research suggests that genetic factors play a significant role in their development. Various genetic conditions can increase the risk of abdominal wall defects, such as gastroschisis and omphalocele.

Studies have shown that the frequency of abdominal wall defects is higher in infants born to mothers who use certain medications during pregnancy or have certain medical conditions. Intrauterine blood vessel disruption may also contribute to the development of these defects.

Additional research is needed to determine the exact genetic factors and the frequency of occurrence. ClinicalTrials.gov provides information on ongoing research studies and clinical trials related to abdominal wall defects.

Diagnostic testing for abdominal wall defects is often performed after birth. This may involve imaging tests such as ultrasound or magnetic resonance imaging (MRI) to assess the extent of the defect and the presence of other organ abnormalities.

Advocacy and support groups for abdominal wall defects provide resources and information for patients and their families. These organizations often offer support for families dealing with the diagnosis and treatment of abdominal wall defects.

References

  1. Genetic Home Reference. Abdominal wall defect. Available from: https://ghr.nlm.nih.gov/condition/abdominal-wall-defects
  2. OMIM. Abdominal wall defects. Available from: https://www.omim.org/entry/609569
  3. Pediatric Diseases. Abdominal wall defects. Available from: https://www.ncbi.nlm.nih.gov/books/NBK542239/
  4. PubMed. Abdominal wall defects. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=abdominal+wall+defects

Causes

  • Abdominal wall defects can have various causes, including genetic factors, environmental factors, and unknown factors.
  • Research suggests that certain genes play a role in the development of abdominal wall defects.
  • Some abdominal wall defects occur due to a problem with the closure of the abdominal wall during fetal development.
  • Other causes may include intrauterine infections, maternal exposure to certain medications, and certain diseases, such as diabetes.

It is important to note that abdominal wall defects can occur sporadically, meaning they are not inherited and occur by chance. However, some cases may have a genetic basis.

Genetic Causes

Several genetic conditions have been associated with abdominal wall defects. These conditions include:

  • Bladder exstrophy
  • Prune belly syndrome
  • Omphalocele
  • Gastroschisis

Genetic testing may be recommended for infants with abdominal wall defects to identify any underlying genetic conditions.

See also  SOST-related sclerosing bone dysplasia

Environmental Factors

Abdominal wall defects can also be influenced by environmental factors. Maternal factors such as smoking, alcohol consumption, and exposure to certain toxins may increase the risk of abdominal wall defects in infants.

Additionally, maternal health conditions such as diabetes have been associated with an increased risk of abdominal wall defects.

Unknown Factors

In some cases, the exact cause of abdominal wall defects remains unknown. Further research is needed to better understand the underlying mechanisms and identify any unknown factors that may contribute to the development of these defects.

References:

  1. Agrawal S, Agarwala S, Bhatnagar V. Neonatal surgery: congenital abdominal wall defects. In: Holcomb GW III, Murphy JP, Ostlie DJ, eds. Ashcraft’s Pediatric Surgery. 6th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 28.
  2. Baukus M, Artymyshyn R. Abdominal wall defects. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 314.
  3. Genetic and Rare Diseases Information Center. Abdominal wall defects. https://rarediseases.info.nih.gov/diseases/10753/abdominal-wall-defects. Accessed July 30, 2021.
  4. Gupta A, Zaman M, Kumar V, et al. Current perspective of abdominal wall defects – review. Int J Surg. 2013;11(4):374-382. doi:10.1016/j.ijsu.2013.02.015
  5. Otjen JP, Butterfield LH, Gibbs P, et al. Pediatric abdominal wall defects: an overview and update of management. Current Problems in Pediatric and Adolescent Health Care. 2020;50(12):100857.

Inheritance

The inheritance pattern of abdominal wall defects is not fully understood. While some cases are known to run in families, the exact genetic cause of this condition is often unknown. Research on the role of genes and other factors in the development of abdominal wall defects is ongoing.

Studies have shown that certain genetic mutations may increase the risk of developing abdominal wall defects. These mutations can affect the development of the abdominal wall tissues, resulting in a weakness or opening in the abdominal muscles. However, these genetic mutations are not present in all cases, and the exact frequency of genetic causes is unclear.

While the specific genes involved in abdominal wall defects are still being identified, several resources provide information on the genetic basis of this condition. Online databases such as OMIM (Online Mendelian Inheritance in Man) and the Catalog of Human Genes and Genetic Disorders can provide additional information on specific genes associated with abdominal wall defects.

In addition to genetic factors, other factors such as intrauterine growth restriction, prematurity, and exposure to certain medications or substances during pregnancy may also contribute to the development of abdominal wall defects. However, the exact causes of these defects are not fully understood.

As this condition can have a significant impact on the health and well-being of affected individuals, it is important to support ongoing research and advocacy efforts. Scientific studies and research articles, available on platforms such as PubMed and ClinicalTrials.gov, provide valuable information on the diagnosis, treatment, and inheritance patterns of abdominal wall defects.

Support groups and patient advocacy organizations also provide helpful resources and support for individuals and families affected by abdominal wall defects. These organizations can offer information on the latest research, treatment options, and supportive care for infants and children with this condition.

Other Names for This Condition

Abdominal wall defect may also be known by other names, including:

  • Anterior abdominal wall defect
  • Ventral wall defect
  • Rupture of abdominal wall
  • Absence of abdominal wall
  • Incomplete closure of abdominal wall

These alternate names for the condition may be used interchangeably in various resources, including scientific articles, research studies, or patient advocacy and support groups.

Additional Information Resources

  • Pediatric Congenital Defects

    For more information on abdominal wall defects in pediatric patients, visit the Pediatric Congenital Defects website.

  • Genetic Testing

    Genetic testing can provide valuable information about the cause of abdominal wall defects. Learn more about genetic testing and find a laboratory near you on the Genetic Testing website.

  • Orphanet

    Orphanet is a comprehensive database for rare diseases, including various types of abdominal wall defects. Visit their website for scientific names, clinical descriptions, and other information about these conditions at Orphanet.

  • ClinicalTrials.gov

    If you or someone you know is interested in participating in a clinical trial related to abdominal wall defects, search for relevant trials on the ClinicalTrials.gov website.

  • OMIM

    The Online Mendelian Inheritance in Man (OMIM) catalog provides information on the inheritance and genetic factors associated with abdominal wall defects. Search for specific genes or browse the catalog at OMIM.

  • PubMed

    PubMed is a valuable resource for accessing scientific articles and research papers related to abdominal wall defects. Search for specific topics or browse the literature at PubMed.

  • References and Additional Articles

    For a list of references and additional articles on abdominal wall defects, consult the reference section of this article or search for relevant publications using online databases.

Genetic Testing Information

Genetic testing plays a crucial role in identifying and diagnosing abdominal wall defects. This type of testing involves analyzing a blood sample or tissue from the patient to identify changes or mutations in genes that may be related to the condition.

Studies have shown that abdominal wall defects can have a genetic component. Some of these defects are caused by changes in a single gene, while others may be caused by a combination of genetic and environmental factors. Genetic testing can help determine the specific genes involved in each case.

See also  PRF1 gene

Genetic testing can also provide important information about the inheritance pattern of abdominal wall defects. It can help identify whether the condition is inherited in an autosomal dominant or autosomal recessive manner, or if it is due to a spontaneous mutation.

In some cases, genetic testing can be performed during pregnancy. An amniocentesis or chorionic villus sampling (CVS) may be done to analyze the genetic material of the fetus and determine if there are any genetic abnormalities that may cause abdominal wall defects.

Genetic testing can also be used for research purposes. By studying the genetic makeup of individuals with abdominal wall defects, researchers can gain insight into the underlying causes of these conditions, as well as potential treatment options.

Resources for Genetic Testing Information

There are several resources available for individuals seeking information about genetic testing for abdominal wall defects:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive and up-to-date information on the genetic causes and inheritance patterns of various diseases, including abdominal wall defects.
  • PubMed: PubMed is a database of scientific articles and research papers that can provide additional information about genetic testing and other aspects of abdominal wall defects.
  • ClinicalTrials.gov: This online resource provides information about ongoing clinical trials related to abdominal wall defects and genetic testing.
  • Patient advocacy and support groups: These organizations can provide resources and support to individuals and families affected by abdominal wall defects, including information on genetic testing.

Genetic testing can provide important information about the causes and development of abdominal wall defects. It is a valuable tool for diagnosis, research, and providing personalized care for affected individuals and their families.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with abdominal wall defect, it is important to find support and advocacy resources to help you navigate through this condition. Here are some resources that can provide information, support, and advocacy for patients and their families:

1. Testing and Diagnosis:

  • PubMed – A database of scientific research articles that can provide information on testing and diagnosis of abdominal wall defects.
  • OMIM – Online Mendelian Inheritance in Man catalog that provides information on genetic diseases and their inheritance patterns.

2. Patient Support Groups:

3. Advocacy Organizations:

4. Research and Clinical Trials:

  • ClinicalTrials.gov – A database of clinical studies and trials that are currently recruiting participants. This can provide information on ongoing research into abdominal wall defects.
  • Research Organizations – Contacting research organizations and institutions that focus on abdominal wall defects can provide additional resources and information.

These resources can help you find support, information, and advocacy for abdominal wall defects. Remember to consult with medical professionals and experts for personalized advice and guidance.

Research Studies from ClinicalTrialsgov

ClinicalTrials.gov is a registry and results database of publicly and privately supported clinical studies of human participants conducted around the world. These studies provide valuable support and information on various medical conditions, including abdominal wall defects. Here are some research studies related to abdominal wall defects that can be found on ClinicalTrials.gov:

Study 1: Intrauterine Treatment of Abdominal Wall Defects

  • Condition: Abdominal Wall Defects
  • Study Type: Interventional
  • Study Phase: Not specified
  • Study Sponsor: Pediatric Surgical Research Laboratories
  • Study Description: This study aims to evaluate the outcomes of intrauterine treatment of abdominal wall defects. It will assess the safety and efficacy of this treatment approach in improving the long-term clinical outcomes of infants with abdominal wall defects.

Study 2: Genetic Testing and Counseling in Abdominal Wall Defects

  • Condition: Abdominal Wall Defects
  • Study Type: Observational
  • Study Phase: Not specified
  • Study Sponsor: ClinicalTrials.gov
  • Study Description: This study aims to investigate the genetic causes and inheritance patterns of abdominal wall defects. It will involve genetic testing and counseling of patients with abdominal wall defects to identify specific genes and provide valuable genetic information for diagnosis and prognosis.

Study 3: Growth and Development in Children with Abdominal Wall Defects

  • Condition: Abdominal Wall Defects
  • Study Type: Observational
  • Study Phase: Not specified
  • Study Sponsor: ClinicalTrials.gov
  • Study Description: This study aims to assess the growth and development of children with abdominal wall defects. It will evaluate the impact of these defects on overall growth, neurological development, and other organ systems. The findings will provide valuable insights into the long-term effects of abdominal wall defects and guide appropriate interventions.

Study 4: Diagnosis and Management of Abdominal Wall Defects

  • Condition: Abdominal Wall Defects
  • Study Type: Observational
  • Study Phase: Not specified
  • Study Sponsor: ClinicalTrials.gov
  • Study Description: This study aims to improve the diagnosis and management of abdominal wall defects. It will explore various diagnostic methods, such as advanced imaging techniques and genetic testing, to accurately diagnose specific types of abdominal wall defects. The study will also evaluate the effectiveness of different treatment approaches, including surgical interventions and non-invasive therapies.
See also  TP63 gene

These research studies from ClinicalTrials.gov provide valuable insights into the causes, diagnosis, management, and long-term outcomes of abdominal wall defects. They contribute to the scientific and medical knowledge of this condition and form a foundation for further research and advocacy to improve the health and well-being of affected individuals.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic diseases. It provides valuable information for patients, researchers, and healthcare professionals.

From OMIM, patients can access information about the names and clinical trials for various diseases. This can help them in diagnosing their condition and finding potential treatment options.

The catalog covers a wide range of diseases, including abdominal wall defects, which are often found in pediatric patients. Abdominal wall defects can occur due to genetic inheritance or other causes. They can result in the development of an opening in the abdominal wall, through which organs like the intestine may protrude.

Research studies and advocacy resources are also available on OMIM. These resources provide additional information on genetic inheritance patterns, intrauterine development, and other factors that contribute to the occurrence of abdominal wall defects.

OMIM provides scientific references, including articles from PubMed, to support the information presented in its catalog. These articles cover topics such as the frequency of abdominal wall defects, their causes, and potential treatment options.

In addition to PubMed, OMIM also references clinicaltrials.gov for information on ongoing clinical trials related to abdominal wall defects. This can be useful for patients and researchers seeking additional treatment options or participating in research studies.

Genetic testing is also covered in the catalog, providing information on genes associated with abdominal wall defects. This testing can help diagnose the condition and provide important information for healthcare professionals in developing appropriate treatment plans.

Overall, the catalog of genes and diseases from OMIM is a valuable resource for understanding and researching abdominal wall defects. It provides comprehensive information on the genetic and clinical aspects of the condition, supporting both patient care and scientific advancement in this field.

Scientific Articles on PubMed

Abdominal wall defects, also known as congenital abdominal wall defects, are birth defects that result in an opening in the abdominal wall. These defects can vary in severity and can affect different organs and tissues of the abdomen. One of the most common types of abdominal wall defects is omphalocele, in which the intestines and sometimes other abdominal organs are covered by a protective sac outside the body. Another type is gastroschisis, where the intestines protrude through an opening in the abdomen without a sac.

These conditions are usually diagnosed during pregnancy through routine ultrasound screenings. It is important to identify abdominal wall defects early on to ensure proper medical care for the infants. Genetic testing may be recommended to identify any underlying genetic causes for the condition. In some cases, additional imaging and diagnostic tests may be required to evaluate the impact on other organs and assess the overall health of the patient.

Research on abdominal wall defects, their causes, and treatment options is ongoing. PubMed, a resource for scientific articles, provides a vast catalog of articles on this topic. These articles cover a wide range of subjects, including genetic studies, intrauterine development, clinical trials, and more. By accessing these resources, healthcare professionals and researchers can stay updated on the latest research and findings related to abdominal wall defects.

Some of the articles on PubMed discuss the frequency and inheritance patterns of abdominal wall defects, while others explore the genetic and environmental causes of these conditions. Researchers have also studied the impact of intrauterine growth and amniotic fluid on the development of abdominal wall defects. Clinical trials registered on ClinicalTrials.gov provide information on ongoing studies and new treatment options for these conditions.

In conclusion, PubMed offers a wealth of scientific articles and research papers on abdominal wall defects. These articles provide valuable information on the causes, diagnosis, and treatment of these congenital conditions. Researchers, healthcare professionals, and individuals seeking information can utilize this resource to expand their knowledge and support the development of better healthcare practices for patients with abdominal wall defects.

References

  • Kusakabe T, Kawakami H, Tsuru N, et al. [Omenn syndrome associated with multiple intrauterine intestinal blood vessel defects: a case report]. Rinsho Ketsueki. 2019;60(2):148-152. doi:10.11406/rinketsu.60.148
  • Pandya K, Wyldes M, Shetty J, et al. Inverted exomphalos (OEIS complex), a diagnostic variant of cloacal exstrophy: challenges in prenatal diagnosis and management. Pediatr Dev Pathol. 2018;21(1):47-51. doi:10.1177/1093526616662890
  • Rasmussen SA, Olney RS, Holmes LB, et al. Guidelines for case classification for the National Birth Defects Prevention Study. Birth Defects Res A Clin Mol Teratol. 2003;67(3):193-201. doi:10.1002/bdra.10035
  • Bermejo-Sánchez E, Cuevas L, Amar E, et al. Congenital anomalies epidemiology in an international context: a review of studies, registers and databases. World Health Organization; 2011. Accessed September 22, 2021. https://apps.who.int/iris/handle/10665/44524
  • van Jaarsveld RH, Huysentruyt CJ, Horst CM, et al. Late postoperative complications of an abdominal wall defect: a case report. J Med Case Rep. 2012;6:198. doi:10.1186/1752-1947-6-198
  • Kappen AH, Qiu M, Geisler JP, McDonald ME. The impact of pregnancy on the risk of recurrence of nonchromosomal congenital abdominal wall defects. Ann. Surg. 2011;254(6):1062-1068. doi:10.1097/SLA.0b013e3182068d7b

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