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Sturge-Weber Syndrome
Taxonomy Code: YF-3000.8220
A congenital, non-familial disorder of unknown cause that is primarily characterized by a congenital facial birthmark (Port Wine Stain) and neurological abnormalities. Other symptoms associated with SWS can include eye and internal organ irregularities. A Port Wine Stain (PWS) is a vascular capillary malformation birthmark, varying in color from light pink to deep purple, that is caused by an overabundance of capillaries just beneath the surface of the skin. When a PWS covers the first and second trigeminal nerve distribution (the eye and forehead region of the face), the presence of Sturge-Weber Syndrome (SWS) is probable. A Port Wine Stain is not the only indicator of SWS and the syndrome can exist without the presence of a detectable Port Wine Stain. A related condition is Klippel-Trenaunay Syndrome (KTS), a congenital vascular disorder of unknown cause that is characterized by a Port Wine Stain, vascular anomalies, blood in the urine, rectal bleeding, vaginal bleeding or bleeding from an abnormal lesion on an affected limb.