Sturge-weber syndrome (meningocutaneous syndrome; vascular encephalotrigeminal syndrome; neuro-oculocutaneous angiomatosis; encephalofacial angiomatosis; encephalotrigeminal syndrome) 1

General: Trisomy 22 or partial trisomy inheritance. Variations include Jahnke syndrome (neuro-oculocutaneous angiomatosis without glaucoma), Schirmer syndrome (oculocutaneous angiomatosis with early glaucoma), Lawford syndrome (oculocutaneous angiomatosis with late glaucoma and no increase in volume of globe), and Mille syndrome (oculocutaneous syndrome with choroidal angioma but no glaucoma).

Ocular: Unilateral hydrophthalmos; secondary glaucoma (late) conjunctival angiomata (telangiectases); iris decoloration; nevoid marks or vascular dilation of the episclera; glioma; serous retinal detachment; choroidal angiomata; deep anterior chamber angle; port-wine stain of eyelid; buphthalmos; optic nerve cupping; anisometropia; hemianopsia; increased corneal diameter; enophthalmos; exophthalmos; optic atrophy; choroidal hemangioma; anterior chamber angle vascularization.

Clinical: Vascular port-wine nevus (face, scalp, limbs, trunk, leptomeninges); acromegaly; facial hemihypertrophy; intracranial angiomas; convulsion; mental retardation; obesity; limb atrophy.

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