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Up to: Inborn errors of metabolism · Mineral metabolism disease · SLC26A2-related skeletal dysplasia · Atelosteogenesis
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.
This condition has no sub-types.