SMC and DMC syndromes come under the category of autosomal recessive spondylo-epi-metaphyseal dysplasia (SEMD), which is a class of osteochondrodysplasia induced by defects in the Dymeclin (DYM) gene located at chromosome 18q21.1 [6,7,8]. Here, DYM is linked to spondyloepimetaphyseal dysplasia.