Atelosteogenesis type II

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, De 50A Chapelle dysplasia, De la Chapelle dysplasia, atelosteogenesis II

1 clinical trial for this condition and its sub-types.