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Genetic and Rare Diseases Information Center (GARD)

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Koolen de Vries syndrome


Other Names for this Disease

  • 17q21.31 deletion syndrome
  • 17q21.31 microdeletion syndrome
  • Chromosome 17q21.31 microdeletion syndrome
  • Microdeletion 17q21.31 syndrome
  • Monosomy 17q21.31
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

Koolen de Vries syndrome, formerly known as 17q21.31 microdeletion syndrome, is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location designated as q21.31. People with 17q21.31 microdeletion syndrome may have developmental delayintellectual disability, seizures, hypotonia. distinctive facial features, and vision problems. Some affected individuals have heart defects, kidney problems, and skeletal anomalies such as foot deformities. Typically their disposition is described as cheerful, sociable, and cooperative. The exact size of the deletion varies among affected individuals, but it contains at least six genes. This deletion affects one of the two copies of chromosome 17 in each cell. The signs and symptoms of 17q21.31 microdeletion syndrome are probably related to the loss of one or more genes in this region.[1]
Last updated: 5/4/2010

References

  1. 17q21.31 microdeletion syndrome. Genetics Home Reference. March 2010; http://ghr.nlm.nih.gov/condition=17q2131microdeletionsyndrome. Accessed 5/4/2010.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Koolen de Vries syndrome. This website is maintained by the National Library of Medicine.
  • Unique is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about 17q21.31 microdeletion syndrome.

In Depth Information

  • The 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 Koolen de Vries syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • 17q21.31 deletion syndrome
  • 17q21.31 microdeletion syndrome
  • Chromosome 17q21.31 microdeletion syndrome
  • Microdeletion 17q21.31 syndrome
  • Monosomy 17q21.31
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.