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.
Hosny and Fabry (1998) reported a patient with Dyggve-Melchior-Clausen disease who underwent Chiari pelvic osteotomy to halt hip subluxation.
Multiple cases of Dyggve-Melchior-Clausen Disease (DMC) were reported in Lebanon by Afifi et al. (1974), Naffah and Taleb (1974), and Bonafede and Beighton (1978). Naffah (1976) observed that the DMC may have a relatively high frequency in Lebanon based on the number of cases reported.
Dyggve-Melchior-Clausen disease was reported by Schorr et al. (1977) in six out of ten siblings from a Moroccan Jewish family.
Thauvin-Robinet et al. (2002) conducted genetic linkage analyses in 9 different famillies (7/9 consanguinous) with Dyggve-Melchior-Clausen disease from Morocco, Tunisia, Lebanon and Portugal, and mapped DMC gene to chromosome 18q21.1.
Schorr et al. (1977) described two siblings from an Arab consanguineous family with Dyggve-Melchior-Clausen syndrome.