Dyggve-Melchior-Clausen Disease (DMC) is part of a heterogeneous group of disorders called spondyloepimetaphyseal dysplasias, which consists of multiple disorders characterised by vertebral, epiphyseal and metaphyseal abnormalities. Other clinical features of DMC, a progressive disorder, include short trunk dwarfism, microcephaly, facial dysmorphism and severe psychomotor retardation. DMC is known to be caused by homozygous or compound heterozygous mutations in the Dymeclin (DYM) gene.