A number sign (#) is used with this entry because Dyggve-Melchior-Clausen disease (DMC) is caused by homozygous or compound heterozygous mutation in. Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder Differential diagnoses include Smith-McCort syndrome (SMC; see this term), which. Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder characterized by the association of spondylo-epi-metaphyseal dysplasia and.
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General Discussion Dyggve-Melchior-Clausen syndrome DMC is a rare, progressive genetic disorder characterized by abnormal skeletal development, microcephaly and intellectual disability. The large majority of mutations identified in the gene predict a loss of function dyggve-melchior-clauen its product.
We are determined to keep this website freely accessible. In adult patients, the vertebral bodies become more rectangular as the appositional bone which appears during adolescence becomes fused.
Problems of Hereditary Chondrodysplasia. This latter feature because less prominent with ydggve-melchior-clausen and disappears by adulthood Dyggve et al. With the exception of reduced length, affected individuals usually are normal at birth. Interestingly, disease producing mutations in this dyndrome are scattered throughout the gene El Ghouzzi et al.
Europ J Med Gen. Diagnosis is based on dyggve-melchikr-clausen evidence revealing platyspondyly with double vertebral humps, epiphyseal and metaphyseal dysplasia and scalloped iliac crests. Please consider making a donation now and again in the future. Expert curators review the literature and organize it to facilitate your work. The lace-like appearance of the iliac crests, which is a characteristic radiologic sign, was found to be caused by bone tissue deposited in a wavy pattern at the osteochondral junction.
Alternatively, gene testing for mutations in DYM can be done.
Rare Disease Database
For all other comments, please send your remarks via contact us. CC HPO: Normally, there is growth deficiency resulting in short stature.
The cause of the disorder also is dygvge-melchior-clausen from mutations in the TRPV4 gene. Differential diagnoses include Smith-McCort syndrome SMC; see this termwhich presents with the same clinical and radiological features as DMC but without intellectual deficiency, and Morquio disease or mucopolysaccharidosis type 4, MPS IV; see this termwhich is clinically similar but has specific radiological and enzymatic signs.
Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Years Published, When it occurs, spinal cord compression in the neck is usually caused by the hypoplasia of the odontoid process and to hyperlaxity of the longitudinal ligament of the upper cervical spine. In some individuals, hip replacement is required.
In addition to the skeletal abnormalities listed above, affected individuals can also develop a short neck and chest, pectus carinatum protruding breastboneflaring of the costal margins, kyphosis excessive backward curvature of the spinelumbar lordosis abnormal forward curvature of the spinescoliosis side-to-side curvature of the spineclaw-like hands, other joint contractures especially of the elbows and hips, genu valgum and talipes equinovarus clubbed feet Aglan et al.
Both are classified as osteochondrodysplasias, specifically a spondyloepimetaphyseal dysplasia; this latter category of dysplasias consists of 28 separate disorders Lachmanpp. The disease often progresses towards orthopedic complications which can include lumbar lordosis, thoracic kyphosis, hip luxation, deformation of the knees and spinal cord compression secondary to instability of the atlas-axis.
As affected individuals age, growth deficiency results in short stature dwarfismin part, due to a disproportionately short neck and trunk, and coxa vara a hip deformity in which the femur [thigh bone] is angled toward the midline of the body. The Dyggve-Melchior-Clausen syndrome in Indian siblings.
Orphanet: Dyggve Melchior Clausen disease
Naffah and Taleb described spinal compression from odontoid hypoplasia, as in the Morquio syndrome. Clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia. There has been some confusion about the inheritance of SMS because Yunis et al. The Johns Hopkins University. As of there were over 90 individuals with DMC or SMS reported in the literature Lachman,p who were dyggve-meldhior-clausen a number of different ethnic groups El Ghouzzi et al.
Alone we are rare. Because of the of atlantoaxial instability found in DMC, cord compression is a concern. With age, other characteristics develop.