Sturge-Weber syndrome
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
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