Congenital Diaphragmatic Hernia

Common Name(s)

Congenital Diaphragmatic Hernia

Congenital diaphragmatic hernia (CDH) refers to a group of congenital defects in the structural integrity of the diaphragm which are often associated with lethal pulmonary hypoplasia and pulmonary hypertension. Prevalence in newborns ranges from 1 in 2,500 to 1 in 4,000, and there is a 30 to 60% mortality rate ({22:Langham et al., 1996}; {14:Harrison et al., 1994}; {25:Nobuhara et al., 1996}). Most cases of congenital diaphragmatic hernia are sporadic. Genetic Heterogeneity of Diaphragmatic Hernia One form of congenital diaphragmatic hernia, DIH1, has been mapped to chromosome 15q26, and another, DIH2 ({222400}), to chromosome 8p23.1. See also DIH3 ({610187}), which is associated with mutation in the ZFPM2 gene ({603693}). There is evidence for further genetic heterogeneity. Also see {306950} for a possible X-linked form. Congenital diaphragmatic hernia can also present with other congenital anomalies. Fryns syndrome ({229850}) may be the most common autosomal recessive syndrome with DIH as a cardinal feature ({31:Slavotinek et al., 2005)}. See {15:Holder et al. (2007)} for a review of genetic factors in congenital diaphragmatic hernia. {28:Pober (2008)} reviewed genetic aspects of congenital diaphragmatic hernia, with emphasis on various syndromes in which CDH occurs along with other manifestations.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Diaphragmatic Hernia" for support, advocacy or research.

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Breath of Hope

Breath of Hope exists to raise awareness of congenital diaphragmatic hernia by working with parents, family members, and medical professionals to educate and support all who are affected by or want to learn more about CDH.

Last Updated: 15 Feb 2013

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Breath of Hope, Incorporated

Breath of Hope exists to raise awareness of congenital diaphragmatic hernia by working with parents, family members, and medical professionals to educate and support all who are affected by or want to learn more about CDH.

Last Updated: 19 Aug 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Diaphragmatic Hernia" for support, advocacy or research.

Logo
Breath of Hope

Breath of Hope exists to raise awareness of congenital diaphragmatic hernia by working with parents, family members, and medical professionals to educate and support all who are affected by or want to learn more about CDH.

http://www.breathofhopeinc.com

Last Updated: 15 Feb 2013

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Breath of Hope, Incorporated

Breath of Hope exists to raise awareness of congenital diaphragmatic hernia by working with parents, family members, and medical professionals to educate and support all who are affected by or want to learn more about CDH.

http://www.breathofhopeinc.com

Last Updated: 19 Aug 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Congenital Diaphragmatic Hernia" returned 212 free, full-text research articles on human participants. First 3 results:

Left congenital diaphragmatic hernia -- case report.
 

Author(s): L Topor, T Pătrăncuş, R Caragaţa, A Moga

Journal: Chirurgia (Bucur). ;110(1):84-7.

 

Congenital diaphragmatic hernia (CDH) occurs when the abdominal contents protrude into the thoracic cavity through an anatomical defect in the diaphragm. The incidence of CDH is 1 in 2500 births, with left congenital diaphragmatic hernias(LCDH) being more common than right-side hernias ...

Last Updated: 24 Mar 2015

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[Effectiveness of nitric oxide inhalation combined with oral sildenafil for the treatment of serious congenital diaphragmatic hernia].
 

Author(s): Yong-Hong Zhang, Jun Wang, Ying Zhu, Zu-Jing Yang, Li-Juan Xie

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2014 Sep;16(9):944-6.

 

Last Updated: 18 Sep 2014

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Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics.
 

Author(s): Mauro Longoni, Frances A High, Meaghan K Russell, Alireza Kashani, Adam A Tracy, Caroline M Coletti, Regis Hila, Ahmed Shamia, Julie Wells, Kate G Ackerman, Jay M Wilson, Carol J Bult, Charles Lee, Kasper Lage, Barbara R Pober, Patricia K Donahoe

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2014 Aug;111(34):12450-5.

 

Congenital diaphragmatic hernia (CDH) is a common and severe birth defect. Despite its clinical significance, the genetic and developmental pathways underlying this disorder are incompletely understood. In this study, we report a catalog of variants detected by a whole exome sequencing ...

Last Updated: 27 Aug 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Congenital Diaphragmatic Hernia" returned 19 free, full-text review articles on human participants. First 3 results:

Current management of congenital diaphragmatic hernia.
 

Author(s): Mariusz Mielniczuk, Krzysztof Kusza, Piotr Brzeziński, Marlena Jakubczyk, Kamila Mielniczuk, Mieczysława Czerwionka-Szaflarska

Journal: Anaesthesiol Intensive Ther. ;44(4):232-7.

 

The treatment of congenital diaphragmatic hernia (CDH) still represents a challenge, even for the specialised multidisciplinary teams in centres that provide treatment for CDH. Despite significant progress in the fields of pathophysiology, prenatal diagnosis, surgical techniques and ...

Last Updated: 25 Jan 2013

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Congenital diaphragmatic hernia.
 

Author(s): Juan A Tovar

Journal:

 

Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency ...

Last Updated: 19 Jan 2012

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Congenital diaphragmatic hernia.
 

Author(s): S Kotecha, A Barbato, A Bush, F Claus, M Davenport, C Delacourt, J Deprest, E Eber, B Frenckner, A Greenough, A G Nicholson, J L Antón-Pacheco, F Midulla

Journal: Eur. Respir. J.. 2012 Apr;39(4):820-9.

 

Infants with congenital diaphragmatic hernia (CDH) have significant mortality and long-term morbidity. Only 60-70% survive and usually those in high-volume centres. The current Task Force, therefore, has convened experts to evaluate the current literature and make recommendations ...

Last Updated: 2 Apr 2012

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Fetal Endotracheal Occlusion (FETO) in Severe and Extremely Severe Congenital Diaphragmatic Hernia
 

Status: Recruiting

Condition Summary: Congenital Diaphragmatic Hernia

 

Last Updated: 16 Apr 2015

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Early FETO for Severe Congenital Diaphragmatic Hernia
 

Status: Not yet recruiting

Condition Summary: Congenital Diaphragmatic Hernia

 

Last Updated: 16 Dec 2013

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