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congenital diaphragmatic hernia

MIM.142340

Wednesday 15 December 2004

Congenital diaphragmatic hernia occurs about once in each 3,000 newborns and is associated with a 30 to 60% mortality rate with significant morbidity among survivors.

The pathologic consequences of CDH result from the abdominal contents entering the thoracic cavity. Hypoplasia of the lung due to decreased thoracic volume compromises pulmonary capacity and often results in neonatal death.

Types

- paravertebral type or posterolateral type (Bochdalek type) (80%)
- parasternal type (in the foramen of Morgagni)
- hiatal hernia (4.5%)
- diaphragmatic agenesis (1/250 000 births)
- diaphragmatic eventration
- central diaphragmatic hernia (septum transversum)

  • Central CDH occurs in the midline of the septum transversum and accounts for 1 to 2% of the total cases of CDH.

Localization

- left diaphragmatic hernia
- right diaphragmatic hernia
- bilateral diaphragmatic hernia

Etiology

- non-syndromic congenital diaphragmatic hernia

  • familial forms of CDH (#6993337#)

- syndromic congenital diaphragmatic hernia

  • Fryns syndrome
  • Cornelia de Lange syndrome (#MIM.122470#)
  • congenital epidermolysis bullosa with diaphragmatic hernia (MIM.226735)
  • Beckwith-Wiedemann syndrome (#15517831#)
  • Brachman-de Lange syndrome
  • Donnai syndrome
  • Denys-Drash syndrome
  • WAGR syndrome (#15779010#)
  • Perlman syndrome
  • germline mutations in STRA6-associated syndrome (STRA6 mutations)(#17273977#)

Cytogenetics (chromosomal anomalies in 15%)

- 2q terminal deletion (#15386475#)
- interstitial deletion of chromosome 3 (#11494969#)
- Wolf-Hirschhorn syndrome (4p-) (#16903248#, #16498629#)
- de novo deletions of 8p23.1 (#16700088#, #15255033#)
- complete trisomy 9 (#15229846#)
- tetrasomy 9p (#16226972#)
- del(8)(p23.1) (#15255033#, #15937941#)
- +i(12)(p10)[6]/46XX[14] (Pallister-Killian syndrome)(#15255033#)

- 15q26 anomalies (#16252246#, #15750894#, #15539876#)

  • 15q26 deletion (#16700088#)
  • 15q26 unbalanced translocations (#15057983#, #15539876#)
  • ring chromosome 15 (#17380471#)

- 18p- syndrome (#14755475#)
- trisomy 18 (#15906414#, #12428693#)

- translocations

  • der(22)t(11:22) (q23.3:q11.2) (#15255033#)
  • t(X;2)(p22;q23)
  • der(14)t(1;14)(q11;p11)

Animal models

- Knock-out mice

  • SLIT3 KO mice (MIM.603745) (#9693030#)

Associations

- pulmonary anomalies

  • pulmonary hypoplasia
  • extralobar sequestration
  • tracheoesophageal fistula
  • congenital pulmonary airway malformations

- cardiovascular anomalies

  • tetralogy of Fallot
  • endocardial cushion defect
  • atrial septal defects
  • ventricular septal defects
  • ectopia cordis
  • aortic coarctation
  • pulmonic stenosis

- gastrointestinal anomalies

  • imperforate anus
  • omphalocele
  • pyloric stenosis
  • gastric duplication
  • intestinal malrotation

- genitourinary anomalies

  • hydronephrosis
  • multicystic kidney
  • duplicated collecting system

- polymalformative syndrome

  • Cornelia de Lange syndrome
  • fetal alcohol syndrome
  • trisomy 18
  • trisomy 21
  • monosomy X (Ullrich-Turner syndrome)

- miscellaneous

  • cleft lip/cleft palate
  • meningomyelocele
  • hemivertebrae

Case records

- Case 10143

References

- Holder AM, Klaassens M, Tibboel D, de Klein A, Lee B, Scott DA. Genetic factors in congenital diaphragmatic hernia. Am J Hum Genet. 2007 May;80(5):825-45. PMID: #17436238#

- Slavotinek AM. The genetics of congenital diaphragmatic hernia.Semin Perinatol. 2005 Apr;29(2):77-85. PMID: #16050525#

- Wilcox DT, Irish MS, Holm BA, Glick PL. Pulmonary parenchymal abnormalities in congenital diaphragmatic hernia. Clin Perinatol. 1996 Dec;23(4):771-9. PMID: #8982570#

Portfolio

  • Bilateral congenital diaphragmatic hernia
  • Bilateral congenital diaphragmatic hernia
  • Bilateral congenital diaphragmatic hernia
  • Bilateral lung hypoplasia in bilateral congenital diaphragmatic (...)
  • Bilateral lung hypoplasia in bilateral congenital diaphragmatic (...)
  • Bilateral diaphragmatic defect
  • Left diaphragmatic hernia (fetus, 25 weeks)
  • Left diaphragmatic hernia (fetus, 25 weeks)
  • Left diaphragmatic hernia (fetus, 25 weeks)
  • Left diaphragmatic hernia (fetus, 25 weeks)