Diastrophic dysplasia

DTD

Diastrophic dysplasia is a disorder of cartilage and bone development. It is inherited in a autosomal recessive pattern and affects about 1 in 100,000 births. Affected individuals have short stature with very short arms and legs and joint problems that restrict mobility. This condition is also characterized by an inward- and downward-turning foot (called clubfoot), progressive curvature of the spine, and unusually positioned thumbs (hitchhiker thumbs). About half of infants with diastrophic ...