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Congenital diaphragmatic hernia(DIH1; DIH1)

MedGen UID:
327155
Concept ID:
C1840644
Disease or Syndrome
Synonyms: Agenesis of hemidiaphragm; Congenital diaphragmatic defect; DIAPHRAGM, COMPLETE AGENESIS OF; DIH; DIH1; Unilateral agenesis of diaphragm
Modes of inheritance:
Multifactorial inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
A phenotypic outcome (physical characteristic or disease predisposition) that is determined by more than one gene. Polygenic refers to those determined by many genes, while oligogenic refers to those determined by a few genes.
 
Cytogenetic location: 15q26.1
OMIM®: 142340

Disease characteristics

Excerpted from the GeneReview: Congenital Diaphragmatic Hernia Overview
Congenital diaphragmatic hernia (CDH) is characterized by: (1) incomplete formation/muscularization of the diaphragm resulting in absence or deficiency of the diaphragm, or (2) eventration resulting in elevation of a portion of the diaphragm that is thinned as a result of incomplete muscularization. Diaphragmatic hernias include posterolateral (Bochdalek) hernias, Morgagni and other anterior hernias, and (rarely) central hernias. About 50%-60% of affected individuals have isolated CDH; the remainder have complex CDH – that is, CDH occurring with additional malformations or as part of a single gene disorder or chromosome abnormality. Infants with CDH often present in the neonatal period with severe respiratory distress; pulmonary hypoplasia is common. Presenting symptoms after infancy can be acute onset of respiratory or gastrointestinal distress or abdominal pain from chronic intestinal obstruction or pleural effusion from entrapment of the bowel in the chest.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Definition  |  Causes  |  Evaluation Strategy  |  Genetic Counseling  |  Resources  |  Management  |  References  |  Chapter Notes
Authors:
Barbara R Pober  |  Meaghan K Russell  |  Kate Guernsey Ackerman   view full author information

Additional descriptions

From OMIM
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 (Langham et al., 1996; Harrison et al., 1994; 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 (Slavotinek et al., 2005). See Holder et al. (2007) for a review of genetic factors in congenital diaphragmatic hernia. Pober (2008) reviewed genetic aspects of congenital diaphragmatic hernia, with emphasis on various syndromes in which CDH occurs along with other manifestations.  http://www.omim.org/entry/142340
From GHR
Congenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm, which is composed of muscle and other fibrous tissue, separates the organs in the abdomen from those in the chest. Abnormal development of the diaphragm before birth leads to defects ranging from a thinned area in the diaphragm to its complete absence. An absent or partially formed diaphragm results in an abnormal opening (hernia) that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. This crowding can lead to underdevelopment of the lungs (pulmonary hypoplasia), potentially resulting in life-threatening breathing difficulties that are apparent from birth. In 5 to 10 percent of affected individuals, signs and symptoms of congenital diaphragmatic hernia appear later in life and may include breathing problems or abdominal pain from protrusion of the intestine into the chest cavity. In about 1 percent of cases, congenital diaphragmatic hernia has no symptoms; it may be detected incidentally when medical imaging is done for other reasons. Congenital diaphragmatic hernias are often classified by their position. A Bochdalek hernia is a defect in the side or back of the diaphragm. Between 80 and 90 percent of congenital diaphragmatic hernias are of this type. A Morgnani hernia is a defect involving the front part of the diaphragm. This type of congenital diaphragmatic hernia, which accounts for approximately 2 percent of cases, is less likely to cause severe symptoms at birth. Other types of congenital diaphragmatic hernia, such as those affecting the central region of the diaphragm, or those in which the diaphragm muscle is absent with only a thin membrane in its place, are rare.  http://ghr.nlm.nih.gov/condition/congenital-diaphragmatic-hernia

Clinical features

Congenital diaphragmatic hernia
MedGen UID:
500895
Concept ID:
CN000730
Finding
The presence of a hernia of the diaphragm present at birth.
Congenital diaphragmatic hernia
MedGen UID:
500895
Concept ID:
CN000730
Finding
The presence of a hernia of the diaphragm present at birth.
Congenital diaphragmatic hernia
MedGen UID:
500895
Concept ID:
CN000730
Finding
The presence of a hernia of the diaphragm present at birth.

Recent clinical studies

Etiology

Leeuwen L, Walker K, Halliday R, Karpelowsky J, Fitzgerald DA
J Pediatr Surg 2014 Sep;49(9):1363-6. Epub 2014 Feb 26 doi: 10.1016/j.jpedsurg.2014.02.081. [Epub ahead of print] PMID: 25148738
Buijs EA, Reiss IK, Kraemer U, Andrinopoulou ER, Zwiers AJ, Ince C, Tibboel D
Pediatr Crit Care Med 2014 May;15(4):343-54. doi: 10.1097/PCC.0000000000000105. PMID: 24622167
Leeuwen L, Fitzgerald DA
J Paediatr Child Health 2014 Sep;50(9):667-73. Epub 2014 Feb 17 doi: 10.1111/jpc.12508. [Epub ahead of print] PMID: 24528549
Moenkemeyer F, Patel N
Pediatr Crit Care Med 2014 Jan;15(1):49-55. doi: 10.1097/PCC.0b013e31829b1e7a. PMID: 23925147
Takahashi S, Sago H, Kanamori Y, Hayakawa M, Okuyama H, Inamura N, Fujino Y, Usui N, Taguchi T
Pediatr Int 2013 Aug;55(4):492-7. doi: 10.1111/ped.12104. PMID: 23565971

Diagnosis

Nonaka A, Hidaka N, Kido S, Fukushima K, Kato K
Congenit Anom (Kyoto) 2014 Nov;54(4):246-9. doi: 10.1111/cga.12075. PMID: 25059273
Buijs EA, Reiss IK, Kraemer U, Andrinopoulou ER, Zwiers AJ, Ince C, Tibboel D
Pediatr Crit Care Med 2014 May;15(4):343-54. doi: 10.1097/PCC.0000000000000105. PMID: 24622167
Leeuwen L, Fitzgerald DA
J Paediatr Child Health 2014 Sep;50(9):667-73. Epub 2014 Feb 17 doi: 10.1111/jpc.12508. [Epub ahead of print] PMID: 24528549
Balayla J, Abenhaim HA
J Matern Fetal Neonatal Med 2014 Sep;27(14):1438-44. Epub 2013 Nov 29 doi: 10.3109/14767058.2013.858691. [Epub ahead of print] PMID: 24156638
Moenkemeyer F, Patel N
Pediatr Crit Care Med 2014 Jan;15(1):49-55. doi: 10.1097/PCC.0b013e31829b1e7a. PMID: 23925147

Therapy

Patel N, Moenkemeyer F, Germano S, Cheung MM
Am J Physiol Lung Cell Mol Physiol 2015 Feb 15;308(4):L378-83. Epub 2014 Dec 5 doi: 10.1152/ajplung.00261.2014. [Epub ahead of print] PMID: 25480334
McGivern MR, Best KE, Rankin J, Wellesley D, Greenlees R, Addor MC, Arriola L, de Walle H, Barisic I, Beres J, Bianchi F, Calzolari E, Doray B, Draper ES, Garne E, Gatt M, Haeusler M, Khoshnood B, Klungsoyr K, Latos-Bielenska A, O'Mahony M, Braz P, McDonnell B, Mullaney C, Nelen V, Queisser-Luft A, Randrianaivo H, Rissmann A, Rounding C, Sipek A, Thompson R, Tucker D, Wertelecki W, Martos C
Arch Dis Child Fetal Neonatal Ed 2015 Mar;100(2):F137-44. Epub 2014 Nov 19 doi: 10.1136/archdischild-2014-306174. [Epub ahead of print] PMID: 25411443
Terui K, Taguchi T, Goishi K, Hayakawa M, Tazuke Y, Yokoi A, Takayasu H, Okuyama H, Yoshida H, Usui N; Japanese Congenital Diaphragmatic Hernia Study Group
Pediatr Surg Int 2014 Nov;30(11):1129-34. Epub 2014 Sep 13 doi: 10.1007/s00383-014-3594-7. [Epub ahead of print] PMID: 25217138
Buijs EA, Reiss IK, Kraemer U, Andrinopoulou ER, Zwiers AJ, Ince C, Tibboel D
Pediatr Crit Care Med 2014 May;15(4):343-54. doi: 10.1097/PCC.0000000000000105. PMID: 24622167
Lally KP, Lasky RE, Lally PA, Bagolan P, Davis CF, Frenckner BP, Hirschl RM, Langham MR, Buchmiller TL, Usui N, Tibboel D, Wilson JM; Congenital Diaphragmatic Hernia Study Group
J Pediatr Surg 2013 Dec;48(12):2408-15. doi: 10.1016/j.jpedsurg.2013.08.014. PMID: 24314179

Prognosis

Leeuwen L, Walker K, Halliday R, Karpelowsky J, Fitzgerald DA
J Pediatr Surg 2014 Sep;49(9):1363-6. Epub 2014 Feb 26 doi: 10.1016/j.jpedsurg.2014.02.081. [Epub ahead of print] PMID: 25148738
Buijs EA, Reiss IK, Kraemer U, Andrinopoulou ER, Zwiers AJ, Ince C, Tibboel D
Pediatr Crit Care Med 2014 May;15(4):343-54. doi: 10.1097/PCC.0000000000000105. PMID: 24622167
Leeuwen L, Fitzgerald DA
J Paediatr Child Health 2014 Sep;50(9):667-73. Epub 2014 Feb 17 doi: 10.1111/jpc.12508. [Epub ahead of print] PMID: 24528549
Moenkemeyer F, Patel N
Pediatr Crit Care Med 2014 Jan;15(1):49-55. doi: 10.1097/PCC.0b013e31829b1e7a. PMID: 23925147
Takahashi S, Sago H, Kanamori Y, Hayakawa M, Okuyama H, Inamura N, Fujino Y, Usui N, Taguchi T
Pediatr Int 2013 Aug;55(4):492-7. doi: 10.1111/ped.12104. PMID: 23565971

Clinical prediction guides

Leeuwen L, Walker K, Halliday R, Karpelowsky J, Fitzgerald DA
J Pediatr Surg 2014 Sep;49(9):1363-6. Epub 2014 Feb 26 doi: 10.1016/j.jpedsurg.2014.02.081. [Epub ahead of print] PMID: 25148738
Buijs EA, Reiss IK, Kraemer U, Andrinopoulou ER, Zwiers AJ, Ince C, Tibboel D
Pediatr Crit Care Med 2014 May;15(4):343-54. doi: 10.1097/PCC.0000000000000105. PMID: 24622167
Balayla J, Abenhaim HA
J Matern Fetal Neonatal Med 2014 Sep;27(14):1438-44. Epub 2013 Nov 29 doi: 10.3109/14767058.2013.858691. [Epub ahead of print] PMID: 24156638
Moenkemeyer F, Patel N
Pediatr Crit Care Med 2014 Jan;15(1):49-55. doi: 10.1097/PCC.0b013e31829b1e7a. PMID: 23925147
Takahashi S, Sago H, Kanamori Y, Hayakawa M, Okuyama H, Inamura N, Fujino Y, Usui N, Taguchi T
Pediatr Int 2013 Aug;55(4):492-7. doi: 10.1111/ped.12104. PMID: 23565971

Recent systematic reviews

Shan W, Wu Y, Huang G, Zeng L, Miao, Yuan, Huang L, Xiang B, Jiang X
J Pak Med Assoc 2014 Jun;64(6):686-9. PMID: 25252491
Lally KP, Lasky RE, Lally PA, Bagolan P, Davis CF, Frenckner BP, Hirschl RM, Langham MR, Buchmiller TL, Usui N, Tibboel D, Wilson JM; Congenital Diaphragmatic Hernia Study Group
J Pediatr Surg 2013 Dec;48(12):2408-15. doi: 10.1016/j.jpedsurg.2013.08.014. PMID: 24314179
Haroon J, Chamberlain RS
Clin Pediatr (Phila) 2013 Feb;52(2):115-24. doi: 10.1177/0009922812472249. PMID: 23378478
Vijfhuize S, Deden AC, Costerus SA, Sloots CE, Wijnen RM
Eur J Pediatr Surg 2012 Oct;22(5):364-73. Epub 2012 Oct 31 doi: 10.1055/s-0032-1329532. PMID: 23114977
Froh EB, Spatz DL
Adv Neonatal Care 2012 Aug;12(4):209-16. doi: 10.1097/ANC.0b013e31825eb07b. PMID: 22864000

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