ORPHA:3205
Sturge-Weber syndrome
Synonyms: Encephalofacial angiomatosis · Encephalotrigeminal angiomatosis · SWS · Sturge-Weber-Dimitri syndrome · Sturge-Weber-Krabbe angiomatosis · Sturge-Weber-Krabbe syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare congenital neurocutaneous syndrome defined by a facial capillary malformation or port-wine birthmark (PWB) associated with cerebral and ocular ipsilateral vascular malformations in most of the cases resulting in variable ocular and neurological complications.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sturge-Weber syndrome | Encephalofacial angiomatosis · Encephalotrigeminal angiomatosis · SWS · Sturge-Weber-Dimitri syndrome · Sturge-Weber-Krabbe angiomatosis · Sturge-Weber-Krabbe syndrome |
| fr | Syndrome de Sturge-Weber | Angiomatose de Sturge-Weber-Krabbe · Angiomatose encéphalofaciale · Angiomatose encéphalotrigéminée · SSW · SWS · Syndrome de Sturge-Weber-Dimitri · Syndrome de Sturge-Weber-Krabbe |
| de | Sturge-Weber-Syndrom | Angiomatose, enzephalotrigeminale · Angiomatosis encephalofacialis · SWS · Sturge-Weber-Dimitri-Syndrom · Sturge-Weber-Krabbe Angiomatose · Sturge-Weber-Krabbe-Syndrom |
| es | Síndrome de Sturge-Weber | Angiomatosis de Sturge-Weber-Krabbe · Angiomatosis encefalofacial · Angiomatosis encefalotrigeminal · SWS · Síndrome de Sturge-Weber-Dimitri · Síndrome de Sturge-Weber-Krabbe |
| it | Sindrome di Sturge-Weber | Angiomatosi di Sturge-Weber-Krabbe · Angiomatosi encefalofacciale · Angiomatosi encefalotrigeminale · SWS · Sindrome di Sturge-Weber-Krabbe |
| nl | Syndroom van Sturge-Weber | Angiomatose van Sturge-Weber-Krabbe · Encefalofaciale angiomatose · Encefalotrigeminale angiomatose · SWS · Syndroom van Sturge-Weber-Dimitri · Syndroom van Sturge-Weber-Krabbe |
| pt | Síndrome Sturge-Weber | |
| pl | Zespół Sturge'a i Webera | Naczyniakowatość mózgowo-trójdzielna · Naczyniakowatość mózgowo-twarzowa · Naczyniakowatość Sturge'a, Webera i Krabbego · SWS · Zespół Sturge'a, Webera i Dimitriego · Zespół Sturge'a, Webera i Krabbego |
| cs | Sturgeův-Weberův syndrom | Encefalofaciální angiomatóza · Encefalotrigeminální syndrom · SWS · Sturgeova-Weberova-Krabbeova angiomatóza · Sturgeův-Weberův-Dimitriho syndrom · Sturgeův-Weberův-Krabbeův syndrom · Sturge-Weberův syndrom · Sturge-Weber-Dimitriho syndrom · Sturge-Weber-Krabbeova angiomatóza · Sturge-Weber-Krabbeův syndrom |
| uk | Синдром Стурджа-Вебера | Енцефалофаціальний ангіоматоз · Енцефалотригемінальний ангіоматоз · Синдром Штурге-Вебера-Дімітрі · Ангіоматоз Штурге-Вебера-Краббе · Синдром Штурге-Вебера-Краббе · SWS |
| zh | Sturge-Weber综合征 | Sturge-Weber-Krabbe血管瘤病 |
| tr | Sturge-Weber sendromu | SWS · Ensefalofasiyal anjiyomatoz · Sturge-Weber-Krabbe sendromu · Sturge-Weber-Dimitri sendromu · Ensefalotrigeminal anjiyomatoz · Sturge-Weber-Krabbe anjiyomatoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 185300 | E | validated | |
| ICD-10 | Q85.8 | NTBT | inclusion | validated |
| ICD-11 | LD23 | NTBT | index | validated |
| MONDO | 0008501 | E | validated | |
| MeSH | D013341 | E | validated | |
| UMLS | C0038505 | E | validated | |
| GARD | 7706 | E | validated | |
| MedDRA | 10042265 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (14):
- ORPHA:166487Cerebral diseases of vascular origin with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:98196Malformation syndrome with hamartosis
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:693802Neonatal/infantile-onset epilepsy syndrome
rare genetic diseases; rare neurological diseases - ORPHA:166466Neurocutaneous syndrome with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:102006Neurovascular malformation
rare neurological diseases - ORPHA:93460Overgrowth syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:98638Rare disease with glaucoma as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:716459Rare disorder with progressive retinal vasculopathy as a major feature
rare ophthalmic disorders - ORPHA:717348Rare genetic disorder with progressive retinal vasculopathy as a major feature
rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:79379Skin vascular disease
rare skin diseases - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:723264Syndromic port-wine capillary malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:137911Autism-facial port-wine stain syndrome moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GNAQ | Disease-causing somatic mutation(s) in | Assessed | HGNC:4390 | ENSG00000156052 | 600998 | 9q21.2 | G protein subunit alpha q | 23656586[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3.5 / 100 000 | Europe | Value and class | Validated | 24275166[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
51 annotations · validated 2024-07-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005306 | Capillary hemangioma | |
| HP:0000996 | Facial capillary hemangioma | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0100659 | Abnormality of the cerebral vasculature | |
| HP:0012222 | Arachnoid hemangiomatosis | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000708 | Atypical behavior | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000501 | Glaucoma | |
| HP:0002315 | Headache | |
| HP:0001347 | Hyperreflexia | |
| HP:0012469 | Infantile spasms | |
| HP:0001249 | Intellectual disability | |
| HP:0012019 | Lens luxation | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0000648 | Optic atrophy | |
| HP:0000486 | Strabismus | |
| HP:0001297 | Stroke | |
| HP:0001123 | Visual field defect | |
| Occasional (29-5%) | ||
| HP:0000610 | Abnormal choroid morphology | |
| HP:0008046 | Abnormal retinal vascular morphology | |
| HP:0000504 | Abnormality of vision | |
| HP:0000729 | Autistic behavior | |
| HP:0000618 | Blindness | |
| HP:0000557 | Buphthalmos | |
| HP:0011787 | Central hypothyroidism | |
| HP:0002514 | Cerebral calcification | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0002308 | Chiari malformation | |
| HP:0007872 | Choroidal hemangioma | |
| HP:0000524 | Conjunctival telangiectasia | |
| HP:0001131 | Corneal dystrophy | |
| HP:0000689 | Dental malocclusion | |
| HP:0002015 | Dysphagia | |
| HP:0009926 | Epiphora | |
| HP:0000212 | Gingival overgrowth | |
| HP:0000364 | Hearing abnormality | |
| HP:0012377 | Hemianopia | |
| HP:0001100 | Heterochromia iridis | |
| HP:0000238 | Hydrocephalus | |
| HP:0100774 | Hyperostosis | |
| HP:0000612 | Iris coloboma | |
| HP:0000256 | Macrocephaly | |
| HP:0200026 | Ocular pain | |
| HP:0002204 | Pulmonary embolism | |
| HP:0034323 | Reduced circulating growth hormone concentration | |
| HP:0000541 | Retinal detachment | |
| HP:0002360 | Sleep abnormality | |
| HP:0004936 | Venous thrombosis | |
| HP:0100761 | Visceral angiomatosis | |
| HP:0000572 | Visual loss | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 36263782[PMID]_28126187[PMID]_29083797[PMID]_37124240[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3205
- This record as JSON: /data/d/3205.json