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Diastrophic Dysplasia
Background
Diastrophic Dysplasia: Diastrophic Dwarfism
Diastrophic dysplasia (DTD) is a rare, inherited skeletal dysplasia (a condition of abnormal bone growth or development) affecting both females and males equally. It was first described in 1960 by French doctors, Dr M Lamy and Dr P Maroteaux, as Le nanisme diastrophique. DTD is a disorder of restricted growth, spinal curvature and abnormalities of the fingers and toes. Intelligence is normal. The average height of adults is 118cm (males: 86 to 127cm; females 104 to 122cm). Respiratory complications can cause an increase in infant mortality, but individuals who survive infancy have a normal life span.
The incidence is thought to be 1 in 110,000 births and it is caused by mutations in the SLC26A2 (DTDST) gene on chromosome 5q31-q34.
