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.

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.

Last Updated: 15 Feb 2013

View Details
Logo
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details
Logo
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 279 free, full-text research articles on human participants. First 3 results:

THE VALUE OF THE OXYGENATION INDEX IN THE PREDICTION OF POSTNATAL OUTCOME IN NEONATES WITH CONGENITAL DIAPHRAGMATIC HERNIA. PRELIMINARY REPORT.
 

Author(s): Ewa Basiewicz-Slaczka, Bogumiła Wołoszczuk-Gebicka, Sadeq Yaqoub, Andrzej Kamiński

Journal: Dev Period Med. ;19(3 Pt 1):283-8.

 

The predicitive values of fetal ultrasonography and magnetic resonance imaging are well established as antenatal outcome predictors in neonates with congenital diaphragmatic hernia (CHD). Postnatal outcome predictors remain elusive.

Last Updated: 9 Mar 2016

Go To URL
Chest X-ray findings in late-onset congenital diaphragmatic hernia, a rare emergency easily misdiagnosed as hydropneumothorax: a case report.
 

Author(s): Vassil Nikolov Zefov, Maryam Anas Almatrooshi

Journal:

 

Late-onset congenital diaphragmatic hernia is a rare anomaly with misleading symptoms and signs.

Last Updated: 23 Dec 2015

Go To URL
Survival of outborns with congenital diaphragmatic hernia: the role of protective ventilation, early presentation and transport distance: a retrospective cohort study.
 

Author(s): Katarina Bojanić, Ena Pritišanac, Tomislav Luetić, Jurica Vuković, Juraj Sprung, Toby N Weingarten, William A Carey, Darrell R Schroeder, Ruža Grizelj

Journal:

 

Congenital diaphragmatic hernia (CDH) is a congenital malformation associated with life-threatening pulmonary dysfunction and high neonatal mortality. Outcomes are improved with protective ventilation, less severe pulmonary pathology, and the proximity of the treating center to the ...

Last Updated: 13 Oct 2015

Go To URL

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

[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

Go To URL
Tension gastrothorax: acute life-threatening manifestation of late onset congenital diaphragmatic hernia (CDH) in children.
 

Author(s): Pål Aksel Næss, Joachim Wiborg, Kristin Kjellevold, Christine Gaarder

Journal:

 

Tension gastrothorax in children is a life-threatening condition and presents dramatically with acute and severe respiratory distress. It develops when an intra-thoracic stomach herniated through a diaphragmatic defect is massively distended by trapped air and/or fluid causing mediastinal ...

Last Updated: 24 Jun 2015

Go To URL
46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly.
 

Author(s): Edward D Esplin, Hassan Chaib, Michael Haney, Brock Martin, Margaret Homeyer, Alexander E Urban, Jonathan A Bernstein

Journal: Am. J. Med. Genet. A. 2015 Jun;167(6):1360-4.

 

The association of 46,XY disorder of sex development (DSD) with congenital diaphragmatic hernia (CDH) is rare, but has been previously described with and without other congenital anomalies. Literature review identified five cases of 46,XY DSD associated with CDH and other congenital ...

Last Updated: 28 May 2015

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
Top

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: 19 Jul 2016

Go to URL
Early FETO for Severe Congenital Diaphragmatic Hernia
 

Status: Not yet recruiting

Condition Summary: Congenital Diaphragmatic Hernia

 

Last Updated: 16 Dec 2013

Go to URL
Fetoscopic Endoluminal Tracheal Occlusion in Severe Left Congenital Diaphragmatic Hernia
 

Status: Recruiting

Condition Summary: Congenital Diaphragmatic Hernia; Pulmonary Hypoplasia

 

Last Updated: 16 Mar 2016

Go to URL