Diastrophic dysplasia syndrome also known as diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips). At birth, infants have bilateral clubfoot, short limb deformation of the wrists and abducted thumbs. Cleft palate and mandible hypoplasia are also common findings. Cysts appear on the external ear within the first months of life.
The syndrome is caused by mutations in the SLC26A2 (or diastrophic dysplasia sulfate transporter; DTDST) gene (5q31-q34), which encodes a sulfate transporter that is predominantly expressed in the cartilage.
