Koolen-De Vries syndrome
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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.
Koolen-de Vries Syndrome Foundation
The Koolen-de Vries Syndrome (KdVS) Foundation's mission is to educate, increase awareness and promote research for the support and enrichment of individuals living with Koolen-de Vries Syndrome and their families.
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.