Familial congenital diaphragmatic hernia is an autosomal recessive variant

Forty families that have had more than one sibling with a congenital diaphragmatic hernia have been identified. The 85 children among the 40 families describe a subset of congenital diaphragmatic hernia displaying an autosomal recessive inheritance mode. The chance of a diaphragmatic hernia among siblings within this subset is 25%.