Learn About Dyggve-Melchior-Clausen Syndrome

What is the definition of Dyggve-Melchior-Clausen Syndrome?
Dyggve-Melchior-Clausen (DMC) syndrome is a rare, progressive genetic condition characterized by abnormal skeletal development, microcephaly, and intellectual disability. Only about 100 cases have been reported to date. Skeletal abnormalities may include a barrel-shaped chest with a short trunk, partial dislocation of the hips, knock knees, bowlegs, and decreased joint mobility. A small number of affected individuals experience instability in the upper neck vertebrae that can lead to spinal cord compression, weakness and paralysis. Normally, there is growth deficiency resulting in short stature. DMC is caused by genetic changes in the DYM gene and is inherited in an autosomal recessive manner.
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What are the alternative names for Dyggve-Melchior-Clausen Syndrome?
  • Dyggve-Melchior-Clausen syndrome
  • DMC syndrome
  • Dyggve-Melchior-Clausen disease
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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

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