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Diseases

Genetic and Rare Diseases Information Center (GARD)

3M syndrome


Other Names for this Disease
  • Three M syndrome
  • Gloomy face syndrome
  • 3M1
  • Dolichospondylic dysplasia
  • Le Merrer syndrome
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Overview

3M syndrome is a disorder that causes short stature (dwarfism), unusual facial features, and skeletal abnormalities. The name of this condition comes from the initials of three researchers who first identified it: Miller, McKusick, and Malvaux. It is caused by mutations in the CUL7 gene and is inherited in an autosomal recessive pattern.[1] 
Last updated: 12/15/2011

References

  1. 3-M syndrome. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition=3msyndrome. Accessed 3/16/2010.
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Basic Information

  • Genetics Home Reference (GHR) contains information on 3M syndrome. This website is maintained by the National Library of Medicine.
  • 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

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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 3M syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Three M syndrome
  • Gloomy face syndrome
  • 3M1
  • Dolichospondylic dysplasia
  • Le Merrer syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.