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Sturge-Weber Syndrome - Medical Condition Information

Sturge-Weber Syndrome

Encephalofacial Angiomatosis
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📋Overview

Sturge-Weber syndrome is a rare congenital neurocutaneous disorder characterized by a facial capillary malformation (port-wine stain), leptomeningeal vascular malformations, and ocular abnormalities. It is a sporadic condition caused by somatic mutations in the GNAQ gene. The modern preferred term remains Sturge-Weber syndrome, with no widely used alternative names.

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Medical codes (for reference)

UMLS CUI: C0038505
ICD-10-CM
Q85.89
MeSH
D013341
SNOMED CT (US)
19886006

Codes are provided for reference and interoperability. They are not a diagnosis.

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