Diastrophic dysplasia

This condition is also characterized by an unusual clubfoot with twisting of the metatarsals, inward and upward-turning foot, tarsus varus and inversion adducted appearances.

Around half of infants with diastrophic dysplasia are born with an opening in the roof of the mouth called a cleft palate.

The protein encoded by this gene is essential for the normal development of cartilage and for its conversion to bone.

Mutations in the SLC26A2 gene alter the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of diastrophic dysplasia.

[4] This article incorporates some public domain text from The U.S. National Library of Medicine