Koolen de Vries syndrome
Other Names for this Disease
- 17q21.31 deletion syndrome
- Monosomy 17q21.31
- Microdeletion 17q21.31 syndrome
- Chromosome 17q21.31 microdeletion syndrome
- 17q21.31 microdeletion syndrome
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chromosome 17. The deletion occurs at a location designated as q21.31. People with 17q21.31 microdeletion syndrome may have developmental delay, intellectual 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.Koolen de Vries syndrome, formerly known as 17q21.31 microdeletion syndrome, is a condition caused by a small deletion of genetic material from
Last updated: 5/4/2010
- 17q21.31 microdeletion syndrome. Genetics Home Reference. March 2010; http://ghr.nlm.nih.gov/condition=17q2131microdeletionsyndrome. Accessed 5/4/2010.
- 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.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.