Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2026
Newly diagnosed with
Koolen-De Vries syndrome due to a point mutation?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Koolen-de Vries Syndrome Foundation
To educate, increase awareness and promote research for the support and enrichment of individuals living with Koolen-de Vries Syndrome and their families.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
Don't see your organization here. Let us know here.
Clinical Trials
For a list of clinical trials in this disease area, please click here.