Sturge-Weber syndrome
Synonyms: Encephalofacial angiomatosis | Encephalotrigeminal angiomatosis | SWS | Sturge-Weber-Dimitri syndrome | Sturge-Weber-Krabbe angiomatosis | Sturge-Weber-Krabbe syndrome
A rare congenital neurocutaneous syndrome defined by a facial capillary malformation or port-wine birthmark (PWB) associated with cerebral and ocular ipsilateral vascular malformations in most of the cases resulting in variable ocular and neurological complications.
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 April 2024
Newly diagnosed with
Sturge-Weber 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
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Collaborative Research Advocacy for Vascular Anomalies Network (CaRAVAN)
As the research-based umbrella organization for all vascular anomalies, we are on a mission to develop a unified network of patients and their families, advocates, researchers, and clinicians who influence research from initial concept and design to patient care delivery
DDX3X Foundation
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.
Genetic Epilepsy Team Australia
Collaboration of research and care
Moonshots for Unicorns
Curing single-gene disorders
Pediatric Epilepsy Surgery Alliance
The Pediatric Epilepsy Surgery Alliance is a trusted source of information for parents and caregivers before and after epilepsy surgery. We’re with our families every step of the way from the point of drug resistance through the transition to adulthood and beyond. Our mission is to enhance the lives of children who need neurosurgery to treat medicationresistant epilepsy by empowering their fam
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Project FAVA
Project FAVA is a 501(c)(3) non-profit patient advocacy group that promotes awareness of fibro-adipose vascular anomalies, educates patients, their families, and the global community, and provides helpful resources to those with FAVA. Project FAVA also advances research to move the needle towards more effective and less invasive treatment options for FAVA patients.
Susan Finnell
The Sturge-Weber Foundation's (The SWF) global mission is to improve the quality of life and care for people with Sturge-Weber syndrome and associated Port-Wine Birthmark conditions through tenacious collaboration with clinical partners and pioneers, education, advocacy, research, and friendly support.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.