Sturge–Weber syndrome

Also known as: Encephalotrigeminal angiomatosis

Facial port-wine birthmark with leptomeningeal angioma and glaucoma.

Medical specialty: Dermatology
Subspecialty: Dermatology / Neurocutaneous syndromes
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, from birth
Gene(s) involved: GNAQ

Etiology & mechanism

Somatic activating GNAQ mutation.

Gene(s) involved (1)

GNAQ

Symptoms & signs (7)

developmental delayglaucomaheadacheshemiparesisport-wine stainseizuresstroke-like episodes

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.