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
Congenital diaphragmatic hernia-1 (DIH1) maps to chromosome 15q26. Also see DIH2 (222400), which maps to chromosome 8p23; DIH3 (610187), caused by mutation in the ZFPM2 gene (603693) on chromosome 8q23; DIH4 (620025), caused by mutation in the ALDH1A2 gene (603687) on chromosome 15q21; and DIH5 (306950), caused by mutation in the PLS3 gene (300131) on chromosome Xq23.
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 also thoracoabdominal syndrome (THAS; 313850), which maps to chromosome Xq25-q26.
Holder et al. (2007) reviewed the 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. [from
OMIM]