Synonyms: KdVS
A rare multisystem disorder characterized by neonatal/childhood hypotonia mild to moderate developmental delay or intellectual disability epilepsy dysmorphic facial features hypermetropia congenital heart anomalies congenital renal/urologic anomalies musculoskeletal problems and a friendly/amiable disposition.
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 July 2026
Newly diagnosed with
Koolen-De Vries syndrome?
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.
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
ReNU2 Foundation
ReNU2 Foundation fosters collaboration, supports families, raises awareness, and advances research into RNU2-2-related neurodevelopmental disease. We connect a growing global community of families, clinicians, and researchers spanning 19 countries, working urgently to ensure every family has access to testing, informed care, and treatments that will change lives.
ReNU2 United
ReNU2 United fosters collaboration, supports families, raises awareness, and advances research into RNU2-2-related neurodevelopmental disease.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
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Clinical Trials
For a list of clinical trials in this disease area, please click here.