Like many of the disproportionate dwarfism disorders, diastrophic dysplasia is a disorder of cartilage and bone development. Diastrophism refers to the Greek word meaning "twisting." This condition earned its name because it causes a rare twisting of the metatarsal bones in the feer, leading to clubfoot, where the feet turn inward and upward. Many people with diastrophic dysplasia also have "hitchhiker’s thumbs." Typically, individuals born with diastrophic dysplasia have short stature and short arms and legs. Joint problems that inhibit mobility are also common.

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