Sturge Weber Syndrome

Sturge-Weber syndrome (SWS) (encephalotrigeminal 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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