Dyggve Melchior Clausen Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Dyggve Melchior Clausen Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Dyggve-Melchior-Clausen (DMC) syndrome is a rare, progressive genetic disorder characterized by abnormal skeletal development, microcephaly and mental retardation. Skeletal abnormalities 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. Normally, there is growth deficiency resulting in short stature. Radiographic findings in older children and adults are pathognomonic for the disorder. The condition, 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), has identical skeletal abnormalities, but lacks the mental deficiency. SMS is also caused by mutations in DYM, and thus is allelic to DMC. Both are classified as osteochondrodysplasias, specifically a spondyloepimetaphyseal dysplasia; this latter category consists of 27 separate disorders.
Human Growth Foundation
997 Glen Cove Avenue
Glen Head, NY 11545
6645 W. North Avenue
Oak Park, IL 60302
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
1660 L Street, NW, Suite 301
Washington, DC 20036
Little People of America, Inc.
250 El Camino Real
Tustin, CA 92780
Coalition for Heritable Disorders of Connective Tissue (CHDCT)
4301 Connecticut Avenue, NW Suite 404
Washington, DC 20008
NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
Bethesda, MD 20892
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
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The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
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Last Updated: 4/10/2009
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