Atelosteogenesis type II
Atelosteogenesis type II
Definition
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.
Also known as AO2, AOII, atelosteogenesis type 2, atelosteogenesis type II, neonatal osseous dysplasia type 1 — per MONDO