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The Sturge-Weber Clinic at Boston Children's Hospital cares for children who have Sturge-Weber syndrome (SWS) — a rare, congenital disorder that is often characterized by a port-wine birthmark on the child’s face. Our clinic is one of 10 Centers of Excellence in the U.S. recognized by The Sturge-Weber Foundation.

Our depth of experience in Sturge-Weber syndrome

Sturge-Weber syndrome can involve a range of complications, including seizures, developmental delays, muscle weakness, and eye problems. Our team includes clinicians from many specialties who work together to care for your child:

Those with more severe epilepsy associated with SWS brain involvement may have greater cognitive deficits and intellectual disability. Hemispherectomy can be a valuable treatment modality for SWS patients with intractable epilepsy. We offer an interdisciplinary team approach for epilepsy surgery evaluation.

Our research and innovation

In partnership the Translational Neuroscience Center, the Vascular Anomalies Center, Advanced Neuroimaging Center, and the Vascular Biology Program, members of the Sturge-Weber Syndrome Clinic team are conducting research to advance our understanding of how SWS develops and how it progresses. Patients sometimes have unique opportunities to participate in research through donation of blood or tissue samples.

In recent years, Boston Children’s researchers have identified the cellular location of the mutated gene, GNAQ R183Q, responsible for causing SWS. From patient-donated samples of malformed skin and brain capillaries, researchers have pinpointed the GNAQ R183Q mutation in blood-vessel cells called endothelial cells.