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

Antenatally diagnosed congenital diaphragmatic hernia in Singapore: a five-year series.
 

Author(s): Shu Yi Sonia Lee, Kok Hian Tan

Journal: Singapore Med J. 2013 Aug;54(8):432-6.

 

We aimed to investigate the epidemiology, diagnosis, prognostication, follow-up care and outcomes of antenatally diagnosed congenital diaphragmatic hernia (CDH) in KK Women's and Children's Hospital (KKH), Singapore. The objective of this study was to identify trends in current practice, ...

Last Updated: 5 Sep 2013

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Late-presenting congenital diaphragmatic hernia in children: the experience of single institution in Korea.
 

Author(s): Dong Jin Kim, Jae Hee Chung

Journal: Yonsei Med. J.. 2013 Sep;54(5):1143-8.

 

Late-presenting congenital diaphragmatic hernia (CDH) beyond the neonatal period is rare and often misdiagnosed, with delayed treatment.

Last Updated: 6 Aug 2013

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Presence of hernia sac in prediction of postoperative outcome in congenital diaphragmatic hernia.
 

Author(s): Shasanka S Panda, Minu Bajpai, M Srinivas

Journal: Indian Pediatr. 2013 Nov;50(11):1041-3.

 

We conducted this study to assess the value of presence of hernia sac in prediction of postoperative outcome in congenital diaphragmatic hernia (CDH). Data were obtained form medical records of 70 children operated for CDH between 2002-12. Postoperative neonatal death occurred in ...

Last Updated: 2 Jan 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

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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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Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia
 

Status: Recruiting

Condition Summary: Congenital Diaphragmatic Hernia

 

Last Updated: 7 Nov 2013

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