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Sturge-Weber syndrome

Synonyms
Encephalofacial angiomatosis; Encephalotrigeminal angiomatosis; Fourth phacomatosis; Leptomeningeal angiomatosis; Meningeal capillary angiomatosis; STURGE-WEBER SYNDROME, SOMATIC, MOSAIC; SWS type I - Facial and leptomeningeal angiomas; SWS type II - Facial angioma alone, no CNS involvement; SWS type III - Isolated leptomeningeal angiomas
Modes of inheritance
Not genetically inherited (Orphanet)

Summary

Sturge-Weber syndrome is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common symptoms and signs are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent stroke-like episodes (review by Thomas-Sohl et al., 2004). [from OMIM]

Available tests

12 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (11 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: CMAL, CMC1, G-ALPHA-q, GAQ, SWS, GNAQ
    Summary: G protein subunit alpha q

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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