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.

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 218 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

Go To URL
Possibilities and limits in the treatment of congenital diaphragmatic hernia.
 

Author(s): R Georgescu, L Chiuţu, R Nemeş, I Georgescu, A Stoica, E Georgescu

Journal: J Med Life. 2014 Sep;7(3):433-9.

 

to establish a therapeutic strategy that will improve the prognosis and increase the survival rate in congenital diaphragmatic hernia.

Last Updated: 21 Nov 2014

Go To URL
Prenatal diagnosis and perinatal outcome in congenital diaphragmatic hernia. Single tertiary center report.
 

Author(s): Stefania Tudorache, Luminiţa Cristina Chiuţu, Dominic Gabriel Iliescu, Raluca Georgescu, George Alin Stoica, Cristiana Eugenia Simionescu, Eugen Florin Georgescu, Răducu Nicolae Nemeş

Journal: Rom J Morphol Embryol. 2014 ;55(3):823-33.

 

To evaluate the perinatal results for fetuses and neonates with left-sided congenital diaphragmatic hernia (CDH) and the role of the prenatal diagnosis in the pregnancy outcome.

Last Updated: 21 Oct 2014

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 20 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

Go To URL
Delayed presentation of congenital diaphragmatic hernia presenting with intrathoracic gastric volvulus: a case report and review.
 

Author(s): Hemanta K Nayak, Gaurav Maurya, Neha Kapoor, Premashis Kar

Journal:

 

Acute gastric volvulus associated with congenital diaphragmatic hernia is an unusual surgical emergency and its presentation in adulthood is extremely rare. Gastric volvulus is an uncommon condition which is difficult to diagnose and treat. This case describes a middle aged man presenting ...

Last Updated: 30 Nov 2012

Go To URL
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

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

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

Status: Recruiting

Condition Summary: Congenital Diaphragmatic Hernia

 

Last Updated: 16 Apr 2015

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