Dyggve-Melchior-Clausen disease

Definition:

Dyggve-Melchior-Clausen disease (DMC) is a rare autosomal recessive disorder characterized by the association of spondylo-epimetaphyseal dysplasia and mental retardation. The patients have a shortened trunk, striking barrel-shaped thorax, rhizomelic limb shortening, and distal deformities. A clinical entity similar to DMC but without mental retardation is called Smith McCort dysplasia. [DS:H02497]

References:

[1]. Luitgard M Neumann, et al. Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia. Am J Med Genet A. 2006 Mar 1;140(5):421-6. [Content Brief]

[2]. Vincent Paupe, et al. Recent advances in Dyggve-Melchior-Clausen syndrome. Mol Genet Metab. 2004 Sep-Oct;83(1-2):51-9. [Content Brief]

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