Diastrophic Dysplasia

Description: What is the meaning? The word “Diastrophic” is derived from Greek meaning crooked or distorted. Lamy and Maroteaux, who coined the term in 1960, differentiated it from other forms of short-stature by its characteristic features including severe growth restriction, involvement of the spine, clubfeet and thumb deformity. Variations of the dysplasia include taller, less severely afflicted patients, who nevertheless have features resembling classic diastrophic dysplasia. Following an international consensus conference, the term diastrophic dwarfism is no longer used.