Diastrophic dysplasia
(重定向自Diastrophic dwarf)

Diastrophic dysplasia (DTD) 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.