Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

5q14.3 microdeletion syndrome


Other Names for this Disease

  • 5q14.3 deletion syndrome
  • Chromosome 5q14.3 deletion syndrome
  • Del(5)(q14.3)
  • Mental retardation, autosomal dominant 20
  • Monosomy 5q14.3
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

5q14.3 microdeletion syndrome is characterized by severe intellectual disability, absent speech, stereotypic movements and epilepsy. Unusual facial features include high broad forehead with variable small chin, short nose with anteverted nares (nostrils that open to the front rather than downward), large open mouth, upslanted palpebral fissures (outside corners of the eyes that point downward), and prominent eyebrows. The condition is caused by mutations affecting the MEF2C gene and deletions in the q14.3 region of chromosome 5.[1][2][3]
Last updated: 7/17/2014

References

  1. 5q14.3 microdeletion syndrome. Orphanet. May 2010; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228384. Accessed 7/17/2014.
  2. MEF2C. Genetics Home Reference (GHR). July 14, 2014; http://ghr.nlm.nih.gov/gene/MEF2C. Accessed 7/17/2014.
  3. Mental retardation, autosomal dominant 20. Online Mendelian Inheritance in Man (OMIM). April 1, 2014; http://omim.org/entry/613443. Accessed 7/17/2014.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about 5q14.3 microdeletion syndrome . We will answer your question and update these pages with new resources and information.

Basic Information

  • Genetics Home Reference (GHR) contains information on 5q14.3 microdeletion syndrome . This website is maintained by the National Library of Medicine.

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 5q14.3 microdeletion syndrome . Click on the link to view a sample search on this topic.
  • Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about 5q14.3 microdeletion syndrome . 
Other Names for this Disease
  • 5q14.3 deletion syndrome
  • Chromosome 5q14.3 deletion syndrome
  • Del(5)(q14.3)
  • Mental retardation, autosomal dominant 20
  • Monosomy 5q14.3
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.