Home > D. General pathology > Genetic and developmental anomalies > Sturge-Weber syndrome
Sturge-Weber syndrome
Monday 23 June 2003
MIM.185300
Synopsis
sporadic (isolated cases)
macrocephaly
facial hemangioma
choroidal hemangioma
glaucoma
buphthalmos
hemangioma in at least first branch (ophthalmic) of trigeminal nerve (unilateral or occasionally bilateral)
arachnoid hemangioma
cerebral cortical atrophy
Etiology:
somatic mosaicism (12221183)
MIM.185300