Diastrophic Dysplasia, a Rare Cause of Congenital Dwarfism

Diastrophic dysplasia (DTD) is a rare skeletal disorder in the spectrum of a specific gene mutation. The term “diastrophos” which means curved or bent in Greek was first reported by Lamy, et al in 1960 from their observation of 3 patients. Since then, we have progressed significantly to understand the disease presentation and inheritance pattern over time.