Diastrophic Dysplasia Dwarfism Congenital Anomalies Musculoskeletal Disorders
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.
Top: Health: Conditions and Diseases: Musculoskeletal Disorders: Congenital Anomalies: Dwarfism: Diastrophic Dysplasia
See Also:
- eMedicine - Diastrophic Dysplasia - Includes a very detailed discussion of the symptoms of DD.
- Diastrophic Dysplasia - Many images of X-rays of DD joints, from congenital anomalies the congenital anomalies Alfred duPont Hospital for Children.
- Online Mendelian Inheritance in Man - Clinical features, diagnosis including prenatal diagnosis, and population and molecular diastrophic dysplasia genetics of DTD.
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