Conditions / Cardiovascular
Sturge-Weber syndrome
info · Cardiovascular · ICD-10: Q85.89
A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2.
Signs and symptoms
- Arachnoid hemangiomatosis
- Seizure
- Cerebral cortical atrophy
- Buphthalmos
- Choroidal hemangioma
- Facial hemangioma
- Macrocephaly
- Intellectual disability
Also known as: SWS; Sturge-Weber-Dimitri syndrome; Sturge-Weber-Krabbe angiomatosis; Sturge-Weber-Krabbe syndrome; encephalofacial angiomatosis