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Diseases

Genetic and Rare Diseases Information Center (GARD)

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3M syndrome


Other Names for this Disease

  • 3-MSBN
  • 3M1
  • Dolichospondylic dysplasia
  • Gloomy face syndrome
  • 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.

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.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about 3M syndrome. We will answer your question and update these pages with new resources and information.

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
  • 3-MSBN
  • 3M1
  • Dolichospondylic dysplasia
  • Gloomy face syndrome
  • 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.