Metatropic dysplasia is an autosomal dominant skeletal dysplasia characterized by short extremities, a short trunk with progressive kyphoscoliosis, and craniofacial abnormalities that include a prominent forehead, midface hypoplasia, and a squared-off jaw. Mutations in the gene encoding TRPV4, a calcium permeable ion channel, have recently been identified in nonlethal metatropic dysplasia.
