A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene. The disease is MONDO_0009727 (atelosteogenesis type II). Also known as: AO2, AOII, atelosteogenesis type 2, neonatal osseous dysplasia type 1.