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 Congenital diaphragmatic hernia-1 (DIH1) maps to chromosome 15q26; DIH2 ({222400}) maps to chromosome 8p23; and DIH3 ({610187}) is associated with mutation in the ZFPM2 gene ({603693}). There is evidence for further genetic heterogeneity, including a possible X-linked form ({306950}). 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 281 free, full-text research articles on human participants. First 3 results:

Hypersplenism Associated With Late-Presenting Congenital Diaphragmatic Hernia: A Rare Combination. Case Report.
 

Author(s): Xue-Xin Lu, Zhen Shen, Kui-Ran Dong, Shan Zheng

Journal: Medicine (Baltimore). 2016 May;95(21):e3707.

 

Congenital diaphragmatic hernia (CDH) is a rare developmental anomaly of the diaphragm that mainly presents mainly in newborns. Even less common is late-onset CDH associated with hypersplenism. We report a 10-year-old male who presented with coughing, blood-stained sputum, and fever. ...

Last Updated: 27 May 2016

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Mechanical intestinal obstruction secondary to congenital diaphragmatic hernia in an adult. Report of a case.
 

Author(s): Rodolfo Batista Castillo, Alicia Martínez Zavala, Gonzalo Galofre Pujol, Yanina Gobbini, Juan Carlos Arias Estévez

Journal: Rev Esp Enferm Dig. 2016 Apr;108(4):226-7.

 

We present a case of congenital diaphragmatic hernia diagnosed in an adult. It is a kind of exceptional pathology outside the pediatric age with few cases reported in the literature. Its presentation is unusual, especially in the form of mechanical intestinal obstruction, requiring ...

Last Updated: 12 Apr 2016

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Familial tetrasomy 4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report.
 

Author(s): Thomas Bogs, Florian Kipfmüller, Nicolai Kohlschmidt, Ulrich Gembruch, Andreas Müller, Heiko Reutter

Journal:

 

Previous reports of chromosomal aberrations in different forms of congenital diaphragmatic hernia have been described as comprising aneuploidies (for example, trisomy 21), microdeletions, and duplications (for example, monosomy 15q24, 22q11.2).

Last Updated: 2 Apr 2016

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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 33 free, full-text review articles on human participants. First 3 results:

Acute gastric volvulus and congenital diaphragmatic hernia, case report and review.
 

Author(s): Laura Pérez-Egido, Alberto Parente, Julio Arturo Cerdá

Journal: Afr J Paediatr Surg. ;12(3):200-2.

 

Congenital diaphragmatic hernia (CDH) is the result of the incomplete fusion and closure of the pleuroperitoneal canal during the fetal development. CDH is usually diagnosed prenatally but, if undiagnosed, the clinical presentation ranges from asymptomatic children to serious respiratory ...

Last Updated: 27 Nov 2015

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Minimally invasive surgery for congenital diaphragmatic hernia: a meta-analysis.
 

Author(s): Y Zhu, Y Wu, Q Pu, L Ma, H Liao, L Liu

Journal: Hernia. 2016 Apr;20(2):297-302.

 

To compare the safety and efficacy of minimally invasive surgery (MIS) with traditional open surgical approach for congenital diaphragmatic hernia (CDH).

Last Updated: 14 Mar 2016

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[Research advances in persistent pulmonary hypertension of the newborn secondary to congenital diaphragmatic hernia].
 

Author(s): Bin Xiao, Min Liu, Chang Xu

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2015 Sep;17(9):1013-9.

 

Persistent pulmonary hypertension of the newborn (PPHN) secondary to congenital diaphragmatic hernia (CDH) is one of the main reasons for high mortality of the newborn and a factor that leads to respiratory and circulatory failure in newborns with CDH. PPHN secondary to CDH is severe ...

Last Updated: 28 Sep 2015

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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: 1 Mar 2017

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Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia
 

Status: Recruiting

Condition Summary: Congenital Diaphragmatic Hernia

 

Last Updated: 16 Dec 2015

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Initiation of Resuscitation While Attached to the Cord With Congenital Diaphragmatic Hernia
 

Status: Not yet recruiting

Condition Summary: Congenital Diaphragmatic Hernia

 

Last Updated: 22 Mar 2017

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