The mammalian diaphragm muscle is essential for respiration, and thus is one of the most critical skeletal muscles in the human body. Defects in diaphragm development leading to congenital diaphragmatic hernias (CDH) are common birth defects and result in severe morbidity or mortality. Given its functional importance and the frequency of congenital defects, an understanding of diaphragm development, both normally and during herniation, is important. We review current knowledge of the embryological origins of the diaphragm, diaphragm development and morphogenesis, as well as the genetic and developmental aetiology of diaphragm birth defects.
The mammalian diaphragm is a critical skeletal muscle essential for respiration. Defects in diaphragm development, leading to congenital diaphragmatic hernias (CDH), are common and often lethal birth defects. Thus, an understanding of diaphragm development normally and during herniation is important. We review the current knowledge of the diaphragm's embryological origins and morphogenesis and the genetic and developmental etiology of CDH.