"Primarily the disease is autosomal recessive, although rarer autosomal dominant forms have been described. Mutations have been found in genes coding for proteins from the Notch signalling pathway. This pathway is important in the process of somite segmentation, central to the development of the vertebrae and ribs. Mutations in the genes DLL3, MESP2, LFNG, and HES7, account for the respective clinicoradiological types 1-4 i.e. SCDO1 to SCDO4."
"The abnormal development of the ribs, including absent (rarely increased number), malalignment and/or fused ribs, such that overall there is a constricted thorax (narrow fetal thorax), leading to breathing difficulties, which can be life-threatening. Due to a lack of room in which to inflate, the lungs expand inferiorly, pushing down on the abdominal viscera, resulting in secondary herniation, including umbilical, diaphragmatic, and inguinal hernias."
"History and etymology"