loading...| Preferred Name |
Sturge-Weber syndrome |
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| Synonyms |
SWS |
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| Definitions |
(SWS) - A syndrome characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common features 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. |
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| ID |
http://identifiers.org/omim/185300 |
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| altLabel |
SWS |
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| definition |
(SWS) - A syndrome characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common features 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. |
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| id |
OMIM:185300 |
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| notation |
OMIM:185300 |
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| prefLabel |
Sturge-Weber syndrome |
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| subClassOf |