Short answer · Medically reviewed summary · Last updated: 2026-05-08
Koolen-de Vries syndrome (KdVS), also known as 17q21.31 microdeletion syndrome, is a rare genetic condition caused by the loss of a small segment of chromosome 17. Because it was historically identified through different methods, it is frequently referred to by several synonyms, including 17q21.31 deletion syndrome and the older designation, 17q21.31 microdeletion syndrome. Why does Koolen-de Vries syndrome have multiple names? The naming of Koolen-de Vries syndrome reflects its discovery in 2006 by Dr.
Koolen De Vries Syndrome / 17q21.31 Microdeletion Syndrome synonyms
Other names for Koolen De Vries Syndrome / 17q21.31 Microdeletion Syndrome: synonyms, acronyms and related terms used by doctors and patients.
Koolen-de Vries syndrome (KdVS), also known as 17q21.31 microdeletion syndrome, is a rare genetic condition caused by the loss of a small segment of chromosome 17. Because it was historically identified through different methods, it is frequently referred to by several synonyms, including 17q21.31 deletion syndrome and the older designation, 17q21.31 microdeletion syndrome.
Why does Koolen-de Vries syndrome have multiple names?
The naming of Koolen-de Vries syndrome reflects its discovery in 2006 by Dr. David Koolen and Dr. Bert de Vries. Before this, the condition was often described in literature simply by its cytogenetic location. The shift toward using the eponymous name Koolen-de Vries syndrome honors the clinical researchers who first defined the syndrome's specific phenotype, while the numeric name remains in use to describe the exact chromosomal location of the 17q21.31 microdeletion.
What are the common synonyms and identifiers?
When searching for medical literature or updating patient records, you may encounter several terms for Koolen-de Vries syndrome. Using these synonyms can help you locate information across different databases:
- 17q21.31 microdeletion syndrome (the most common alternative)
- 17q21.31 deletion syndrome
- Koolen-de Vries syndrome (preferred clinical term)
- KdVS (standard medical abbreviation)
- OMIM #610443 (the unique identifier in the Online Mendelian Inheritance in Man database)
How is the condition classified in medical systems?
In international medical classifications, Koolen-de Vries syndrome is categorized based on its genetic etiology. Orphanet recognizes the condition under the identifier ORPHA:168565. While older medical records might refer to it by the chromosomal site, Koolen-de Vries syndrome is the consensus name used by the international medical community to describe the combined features of developmental delay, intellectual disability, and characteristic facial features associated with the 17q21.31 microdeletion.
Next steps
- Consult with a clinical geneticist to verify your specific genetic report.
- Connect with the 8 members on DiseaseMaps.org who have experience with Koolen-de Vries syndrome.
- Visit the Koolen-de Vries Syndrome Foundation for updated clinical guidelines.
Medical disclaimer: This content is for informational purposes only and does not constitute medical advice; always consult with a qualified healthcare provider regarding your specific diagnosis and treatment.
References
- Orphanet: ORPHA168565 (Koolen-de Vries syndrome)
- NIH GARD: Genetic and Rare Diseases Information Center (17q21.31 microdeletion syndrome)
- OMIM: Entry #610443 (Koolen-de Vries syndrome)
- Koolen-de Vries Syndrome Foundation (kdvsfoundation.org)
