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

Congenital diaphragmatic hernia in association with congenital short esophagus: A case report.
 

Author(s): Bo Xia, Chun Hong, Jing Tang, Cuifen Liu, Gang Yu

Journal: Medicine (Baltimore). 2017 Dec;96(51):e8996.

 

Congenital diaphragmatic hernia (CDH) associated congenital anomalies are present in about 25%. Congenital short esophagus (CSE) is a relatively rare condition. Both CDH and congenital intrathoracic stomach caused by CSE can be diagnosed in utero. However, CSE can be easily misdiagnosed in utero.

Last Updated: 31 Dec 1969

Go To URL
Right congenital diaphragmatic hernia associated with abnormality of the liver in adult.
 

Author(s): Gezahen Negusse Ayane, Mikel Walsh, Jemal Shifa, Kadimo Khutsafalo

Journal:

 

A Bochdalek hernia (BH) occurs when abdominal contents herniate through the postero-lateral segment of the diaphragm. The right side is affected considerably less commonly than the left. Most BHs present are diagnosed early in life, with some element of cardio-respiratory distress. ...

Last Updated: 31 Dec 1969

Go To URL
Congenital Diaphragmatic Hernia.
 

Author(s): Jared Klein, Megan Sirota

Journal: N. Engl. J. Med.. 2017 Oct;377(17):e25.

 

Last Updated: 31 Dec 1969

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

Predicting outcomes in congenital diaphragmatic hernia.
 

Author(s): Oluwatomilayo Daodu, Mary E Brindle

Journal: Semin. Pediatr. Surg.. 2017 Jun;26(3):136-139.

 

Identification of CDH infant populations at high risk for mortality postnatally may help to develop targeted care strategies, guide discussions surrounding palliation and contribute to standardizing reporting and benchmarking, so that care strategies at different centers can be compared. ...

Last Updated: 31 Dec 1969

Go To URL
Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies.
 

Author(s): Patricia K Donahoe, Mauro Longoni, Frances A High

Journal: Am. J. Pathol.. 2016 Oct;186(10):2532-43.

 

Congenital diaphragmatic hernia (CDH) is one of the most common and lethal congenital anomalies, and significant evidence is available in support of a genetic contribution to its etiology, including single-gene knockout mice associated with diaphragmatic defects, rare monogenetic ...

Last Updated: 31 Dec 1969

Go To URL
Lung size and liver herniation predict need for extracorporeal membrane oxygenation but not pulmonary hypertension in isolated congenital diaphragmatic hernia: systematic review and meta-analysis.
 

Author(s): F M Russo, M P Eastwood, R Keijzer, J Al-Maary, J Toelen, T Van Mieghem, J A Deprest

Journal: Ultrasound Obstet Gynecol. 2017 Jun;49(6):704-713.

 

To identify antenatal predictors of persistent pulmonary hypertension (PPH) and the need for extracorporeal membrane oxygenation (ECMO) in fetuses with congenital diaphragmatic hernia (CDH).

Last Updated: 31 Dec 1969

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Delayed Cord Clamping for Congenital Diaphragmatic Hernia
 

Status: Recruiting

Condition Summary: Congenital Diaphragmatic Hernia

 

Last Updated: 18 Jan 2018

Go to URL
Resuscitation of Infants With Congenital Diaphragmatic Hernia With an Intact Umbilical Cord
 

Status: Recruiting

Condition Summary: Congenital Diaphragmatic Hernia

 

Last Updated: 12 Jan 2018

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

Status: Recruiting

Condition Summary: Congenital Diaphragmatic Hernia

 

Last Updated: 27 Apr 2017

Go to URL