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Diseases Studied

The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.

This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email

All Diseases > Sturge-Weber syndrome

Sturge-Weber syndrome (SWS)

Alternative Names: Leptomeningeal Angiomatosis; Sturge-Weber-Krabbe Syndrome; Sturge-Weber-Dimitri Syndrome; Phakomatosis, Sturge-Weber; Neuroretinoangiomatosis; Meningofacial Angiomatosis-Cerebral Calcification Syndrome; Meningo-oculo-facial Angiomatosis; Encephalofacial Hemangiomatosis Syndrome; Encephalofacial Hemangiomatosis; Angiomatosis Aculoorbital-Thalamic Syndrome

Disease Category: Brain Vascular Malformations

A condition resulting in abnormal blood vessel development in the brain, eyes, and skin before birth. Hallmark features are a port-wine birthmark (a red, pink, or purple facial birthmark), leptomeningeal angiomas (blood vessel abnormalities between the two tissue layers covering the brain), and glaucoma (increased eye pressure). Symptoms include migraines, seizures, vision problems, and hemiparesis (temporary one-sided muscle weakness).

Research groups studying this disease

Brain Vascular Malformations
BVMC logo

Brain Vascular Malformation Consortium (BVMC)


The objective is to integrate longitudinal clinical data, radiological data, and blood biomarkers of SWS patients to identify those at most risk to have severe neurological symptoms and to identify potential treatments (Aim 1). We will identify plasma and imaging biomarkers sensitive to exacerbation of clinical symptoms including seizures, headaches, or stroke-like episodes that may indicate disease progression and correlate with severe neurological symptoms (Aim 2). Finally, for enrolled patients who present with severe neurological symptoms blood samples will be screened for inflammatory changes by comparing plasma collected at baseline, during, and after the severe symptoms to identify predictive biomarkers for clinical trials (Aim 3).

Provides support to patients and families with a diagnosis of Sturge-Weber syndrome (SWS) and funds research.