Sturge-Weber Center, Hunter Nelson

Baltimore, Md. -- In new findings published today in the New England Journal of Medicine (Epub ahead of print), researchers from the Kennedy Krieger Institute reveal the discovery of the cause – a genetic mutation that occurs before birth – of Sturge-Weber syndrome (SWS) and port-wine stain birthmarks. SWS is a rare disorder affecting approximately one in 20,000 births, while port-wine birthmarks are more common, affecting approximately one million individuals in the United States.  

The day Colleen Watson delivered her son Kyle was one of the happiest days of her life.

(Baltimore, Md) - Sturge-Weber Syndrome is a disease characterized by a facial birthmark, or "port wine stain," in association with abnormal blood vessels on the surface of the brain, glaucoma or both. Seizures, beginning often in infancy, are the most common symptom, followed by weakening or loss of the use of one side of the body (hemiparesis), vision impairments and delays in motor and cognitive skill development.