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
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