An autosomal recessive condition caused by mutation(s) in the slc26a2 gene, encoding sulfate transporter. it is characterized by cartilaginous and bony abnormalities, in particular very short arms and legs and the "hitchhiker" thumb, resulting from deformity of the first metacarpal.

Diastrophic dysplasia is an autosomal recessive dysplasia which affects cartilage and bone development. ("Diastrophism" is a general word referring to a twisting.) Diastrophic dysplasia is due to mutations in the SLC26A2 gene. Affected individuals have short stature with very short arms and legs and joint problems that restrict mobility..