“…The first group is known as skeletal dysplasias, and comprehend more than 400 different diseases forming a clinically and genetic heterogeneous group of disorders characterized by short stature and deformation/malformation of bone and cartilage with a wide spectrum of severity. Although individually each disorder is rare, birth incidence of these disorders is almost 1/5000 [307,308]. Initially, skeletal dysplasias were divided based on clinical and radiologic criteria mainly into: osteodysplasias (defects in mineralization), osteochondrodysplasias or chondrodysplasias (defects affecting cartilage and bone development), dysostoses (malformations of one or certain group of bones), however with increasing knowledge and number of diseases identified, they have been reclassified in around 40 groups based on biochemical, molecular and/or radiographic criteria [306,307,309].…”