Dyggve Melchior Clausen syndrome
National Organization for Rare Disorders, Inc.
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Dyggve-Melchior-Clausen syndrome (DMC) is a rare, progressive genetic disorder characterized by abnormal skeletal development, microcephaly and intellectual disability. The condition was first reported by Dyggve, Melchior and Clausen in 1962 in three of eight siblings where the father was the mother's paternal uncle. Because of physical appearance and the present of acid mucopolysaccharides in the urine, these authors believed that their affected patients had Morquio-Ullrich disease (now Morquio syndrome). Skeletal abnormalities in this condition may include a barrel-shaped chest with a short truck, partial dislocation of the hips, genu valgum (knocked knees) or varum (bowed legs), and decreased joint mobility. In 11% of patients, there is atlantoaxial (upper neck vertebrae) instability that can lead to spinal cord compression, weakness and paralysis (Kandziora et al. 2002). Normally, there is growth deficiency resulting in short stature. Radiographic findings in older children and adults are pathognomonic for the disorder (Aglan at et. 2009). DMC results from mutations in the DYM (dymeclin) gene and is inherited in an autosomal recessive mode.
A variant of DMC syndrome, Smith-McCort syndrome (SMS), which was first described by Smith and McCort in 1958, has identical skeletal abnormalities, but lacks both the intellectual disability and microcephaly (Burns et al. 2003; Neumann et al. 2006; Santos et al. 2009). SMS is also caused by mutations in DYM, and thus is allelic to DMC (Santos et al. 2009). Both are classified as osteochondrodysplasias, specifically a spondyloepimetaphyseal dysplasia; this latter category of dysplasias consists of 28 separate disorders (Lachman 2007, pp. 934-6).
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Last Updated: 6/7/2016
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