Diastrophic dysplasia (DTD) is a chondrodysplasia causing severe growth retardation, and structural and functional abnormalities of joints. Growth retardation and joint abnormalities are already present in utero, and mean height at birth is 32.5 cm. Extremities are short while the trunk is of normal size, upper arms show ulnar deviation with stiff fingers and a "hitchhiker" thumb. Hips are stiff and most patients have club foot. A cleft palate is frequent. Growth remains slow, the median adult height for males is 135 cm and 129 cm for females. Changes in the joints often progress with age and corrective surgery becomes necessary.
Many pictures and much information about DD dwarfs, their development, treatment, and even pregnancy.
Many images of X-rays of DD joints, from the Alfred duPont Hospital for Children.
Includes a very detailed discussion of the symptoms of DD.
Clinical features, diagnosis including prenatal diagnosis, and population and molecular genetics of DTD.
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