Sturge-Weber syndrome
Findings
No curated finding names Sturge-Weber syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.
Definition from the Mondo Disease Ontology (MONDO:0008501), read 2026-09-29. CC BY 4.0.
Features
52 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Capillary hemangiomaHPOHP:0005306
- Very frequent (80% to 99% of cases)
- Facial capillary hemangiomaHPOHP:0000996
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Abnormal cerebral vascular morphologyHPOHP:0100659
- Frequent (30% to 79% of cases)
- Arachnoid hemangiomatosisHPOHP:0012222
- Frequent (30% to 79% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- GlaucomaHPOHP:0000501
- Frequent (30% to 79% of cases)
- HeadacheHPOHP:0002315
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- Infantile spasmsHPOHP:0012469
- Frequent (30% to 79% of cases)
Show the remaining 40
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Lens luxationHPOHP:0012019
- Frequent (30% to 79% of cases)
- Neurodevelopmental delayHPOHP:0012758
- Frequent (30% to 79% of cases)
- Optic atrophyHPOHP:0000648
- Frequent (30% to 79% of cases)
- StrabismusHPOHP:0000486
- Frequent (30% to 79% of cases)
- StrokeHPOHP:0001297
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GNAQHGNC:4390
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2017
Where it sits
Other names
10 names
Resolves to: Sturge-Weber syndrome
- Also called
- encephalofacial angiomatosisencephalotrigeminal angiomatosisencephalotrigeminal syndromeSturge Weber SyndromeSturge-Weber diseaseSturge-Weber syndrome, somatic, mosaicSturge-Weber-Dimitri syndromeSturge-Weber-Krabbe angiomatosisSturge-Weber-Krabbe syndromeSWS