{"orpha":3205,"name":"Sturge-Weber syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Encephalofacial angiomatosis","Encephalotrigeminal angiomatosis","SWS","Sturge-Weber-Dimitri syndrome","Sturge-Weber-Krabbe angiomatosis","Sturge-Weber-Krabbe syndrome"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3205/","orphanet_url":"https://www.orpha.net/en/disease/detail/3205","names":{"fr":{"name":"Syndrome de Sturge-Weber","synonyms":["Angiomatose de Sturge-Weber-Krabbe","Angiomatose encéphalofaciale","Angiomatose encéphalotrigéminée","SSW","SWS","Syndrome de Sturge-Weber-Dimitri","Syndrome de Sturge-Weber-Krabbe"],"definition":"Syndrome neurocutané congénital rare défini par une malformation capillaire faciale ou une tache de naissance lie de vin, associé à des malformations vasculaires cérébrales et oculaires ipsilatérales dans la plupart des cas, entraînant des complications oculaires et neurologiques variables."},"de":{"name":"Sturge-Weber-Syndrom","synonyms":["Angiomatose, enzephalotrigeminale","Angiomatosis encephalofacialis","SWS","Sturge-Weber-Dimitri-Syndrom","Sturge-Weber-Krabbe Angiomatose","Sturge-Weber-Krabbe-Syndrom"],"definition":"Eine seltene angeborene neurokutane Erkrankung, die durch fehlgebildete Kapillaren des Gesichtes und/oder zerebrale und okuläre ipsilaterale Gefäßfehlbildungen gekennzeichnet ist, die zu einem unterschiedlichen Grad an okulären und neurologischen Anomalien führen."},"es":{"name":"Síndrome de Sturge-Weber","synonyms":["Angiomatosis de Sturge-Weber-Krabbe","Angiomatosis encefalofacial","Angiomatosis encefalotrigeminal","SWS","Síndrome de Sturge-Weber-Dimitri","Síndrome de Sturge-Weber-Krabbe"],"definition":"Es un síndrome neurocutáneo congénito poco frecuente que se define por una malformación capilar facial o en mancha de vino de Oporto (PWB) presente al nacimiento asociada a malformaciones vasculares ipsilaterales cerebrales y oculares en la mayoría de los casos que dan lugar a complicaciones oculares y neurológicas variables."},"it":{"name":"Sindrome di Sturge-Weber","synonyms":["Angiomatosi di Sturge-Weber-Krabbe","Angiomatosi encefalofacciale","Angiomatosi encefalotrigeminale","SWS","Sindrome di Sturge-Weber-Krabbe"],"definition":"La sindrome di Sturge-Weber (SWS) è una malattia neurocutanea congenita rara, caratterizzata da malformazioni dei capillari del viso o da un nevo color macchia di vino-porto (PWB), associati a malformazioni vascolari omolaterali dell'occhio, che nella maggior parte dei pazienti esitano in complicanze oculari e neurologiche di grado variabile."},"nl":{"name":"Syndroom van Sturge-Weber","synonyms":["Angiomatose van Sturge-Weber-Krabbe","Encefalofaciale angiomatose","Encefalotrigeminale angiomatose","SWS","Syndroom van Sturge-Weber-Dimitri","Syndroom van Sturge-Weber-Krabbe"],"definition":"Een zeldzaam congenitaal neurocutaan syndroom, gedefinieerd door een capillaire malformatie of wijnvlek in het gelaat, geassocieerd met cerebrale en oculaire ipsilaterale vasculaire malformaties die in de meeste gevallen resulteren in variabele oculaire en neurologische complicaties."},"pt":{"name":"Síndrome Sturge-Weber"},"pl":{"name":"Zespół Sturge'a i Webera","synonyms":["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"],"definition":"Rzadki wrodzony zespół nerwowo-skórny definiowany jako malformacja naczyń włosowatych twarzy lub znamię typu port-wine, związany z ipsilateralnymi malformacjami naczyniowymi mózgu i oka, w większości przypadków skutkujący zmiennymi powikłaniami ocznymi i neurologicznymi."},"cs":{"name":"Sturgeův-Weberův syndrom","synonyms":["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":{"name":"Синдром Стурджа-Вебера","synonyms":["Енцефалофаціальний ангіоматоз","Енцефалотригемінальний ангіоматоз","Синдром Штурге-Вебера-Дімітрі","Ангіоматоз Штурге-Вебера-Краббе","Синдром Штурге-Вебера-Краббе","SWS"],"definition":"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."},"zh":{"name":"Sturge-Weber综合征","synonyms":["Sturge-Weber-Krabbe血管瘤病"]},"tr":{"name":"Sturge-Weber sendromu","synonyms":["SWS","Ensefalofasiyal anjiyomatoz","Sturge-Weber-Krabbe sendromu","Sturge-Weber-Dimitri sendromu","Ensefalotrigeminal anjiyomatoz","Sturge-Weber-Krabbe anjiyomatoz"]}},"xrefs":[{"source":"OMIM","code":"185300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q85.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD23","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1173035836"},{"source":"MONDO","code":"0008501","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D013341","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0038505","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7706","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10042265","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":137911,"name":"Autism-facial port-wine stain syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":166487,"name":"Cerebral diseases of vascular origin with epilepsy","classifications":[156,181]},{"orpha":728642,"name":"Genetic syndrome or malformation associated with head and neck malformations","classifications":[156]},{"orpha":98196,"name":"Malformation syndrome with hamartosis","classifications":[147,156]},{"orpha":693802,"name":"Neonatal/infantile-onset epilepsy syndrome","classifications":[156,181]},{"orpha":166466,"name":"Neurocutaneous syndrome with epilepsy","classifications":[156,181]},{"orpha":102006,"name":"Neurovascular malformation","classifications":[181]},{"orpha":93460,"name":"Overgrowth syndrome","classifications":[147,156]},{"orpha":98638,"name":"Rare disease with glaucoma as a major feature","classifications":[156,189]},{"orpha":716459,"name":"Rare disorder with progressive retinal vasculopathy as a major feature","classifications":[189]},{"orpha":717348,"name":"Rare genetic disorder with progressive retinal vasculopathy as a major feature","classifications":[156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":79379,"name":"Skin vascular disease","classifications":[187]},{"orpha":156237,"name":"Syndrome or malformation associated with head and neck malformations","classifications":[147,200,209]},{"orpha":723264,"name":"Syndromic port-wine capillary malformation","classifications":[147,198]}],"children":[],"genes":[{"symbol":"GNAQ","name":"G protein subunit alpha q","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"23656586[PMID]","hgnc":"4390","ensembl":"ENSG00000156052","omim":"600998","loci":["9q21.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.5,"area":"Europe","status":"Validated","source":"24275166[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-07-17","source":"36263782[PMID]_28126187[PMID]_29083797[PMID]_37124240[PMID]","terms":[{"hpo":"HP:0005306","label":"Capillary hemangioma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000996","label":"Facial capillary hemangioma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100659","label":"Abnormality of the cerebral vasculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012222","label":"Arachnoid hemangiomatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012019","label":"Lens luxation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000610","label":"Abnormal choroid morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008046","label":"Abnormal retinal vascular morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000557","label":"Buphthalmos","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011787","label":"Central hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007872","label":"Choroidal hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000524","label":"Conjunctival telangiectasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001131","label":"Corneal dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009926","label":"Epiphora","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000364","label":"Hearing abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012377","label":"Hemianopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001100","label":"Heterochromia iridis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100774","label":"Hyperostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200026","label":"Ocular pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002204","label":"Pulmonary embolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034323","label":"Reduced circulating growth hormone concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100761","label":"Visceral angiomatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null}]}}