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Genetic and Rare Diseases Information Center (GARD)

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Dyggve-Melchior-Clausen syndrome


Other Names for this Disease

  • DMC syndrome
  • Dyggve-Melchior-Clausen disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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 truck, partial dislocation of the hips, knock kneesbowlegs, 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 mutations in the DYM gene and is inherited in an autosomal recessive manner.[1] Some researchers have described an X-linked pattern of inheritance, which has not been confirmed to date.[2]
Last updated: 6/9/2011

References

  1. Dyggve Melchior Clausen syndrome. National Organization for Rare Disorders (NORD). 2009; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/874/viewAbstract. Accessed 5/16/2011.
  2. Dyggve-Melchior-Clausen syndrome, X-linked. Online Mendelian Inheritance of Man (OMIM). 1994; http://www.ncbi.nlm.nih.gov/omim/304950. Accessed 5/16/2011.
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Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss the different types of Dyggve-Melchior-Clausen syndrome. Click on the links below to go to OMIM and review these resources.
    Dyggve-Melchior-Clausen syndrome - Autosomal recessive
    Dyggve-Melchior-Clausen syndrome - X-linked
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Dyggve-Melchior-Clausen syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • DMC syndrome
  • Dyggve-Melchior-Clausen disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.