PEARLS Blog

July 18

Photography, Thursday all day.

 

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What is Sturge-Weber Syndrome?

Sturge-Weber Syndrome (SWS) (encephelotrigeminal angiomatosis) is a congenital, non-familial disorder caused by the GNAQ gene mutation.  It is characterized by a congenital facial birthmark and neurological abnormalities. Other symptoms associated with Sturge-Weber can include eye, endocrine and organ irregularities, as well as developmental disabilities. Each case of Sturge-Weber Syndrome is unique and exhibits the characterizing findings to varying degrees.

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