Diastrophic dysplasia
Definition
Diastrophic dysplasia (DTD) is a rare genetic disorder of bone growth and formation that is evident at birth.
Description
Diastrophic dysplasia is one of the genetic osteochondrodysplasias, a group of disorders characterized by abnormal growth and formation of bone and cartilage. The main features of DTD include: malformed ears, cleft palate, short limbs, short stature, spinal and joint deformities, and abnormalities of the bones of the hands and feet. Although children with DTD may experience delays in motor development (e.g. walking at a later age than expected), they are of normal intelligence. The syndrome derives its name from the Greek word, diastrophos, meaning twisted or crooked. Maroteaux and Lamy first used the term diastrophic dysplasia in 1960 to describe three...
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