{"orpha":2182,"name":"Hydrocephalus with stenosis of the aqueduct of Sylvius","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Bickers-Adams syndrome","HSAS","X-linked HSAS","X-linked acqueductal stenosis","X-linked hydrocephalus","X-linked hydrocephalus with stenosis of aqueduct of Sylvius"],"definition":"A congenital, X-linked, clinical subtype of L1 syndrome characterized by severe hydrocephalus often of prenatal onset, adducted thumbs, spasticity (mostly evidenced by brisk tendon reflexes and extensor plantar responses) and moderate to severe intellectual disability. This subtype represents the severe end of the L1 syndrome spectrum and is associated with poor prognosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2182/","orphanet_url":"https://www.orpha.net/en/disease/detail/2182","names":{"fr":{"name":"Hydrocéphalie avec sténose de l'aqueduc de Sylvius","synonyms":["HSAS","HSAS liée à l'X","Hydrocéphalie avec sténose de l'aqueduc de Sylvius liée à l'X","Hydrocéphalie liée à l'X","Syndrome de Bickers-Adams"],"definition":"Sous-type clinique congénital, lié à l'X du syndrome L1, caractérisé par une hydrocéphalie sévère, souvent d'apparition prénatale, des pouces en adduction, une spasticité (principalement mise en évidence par des réflexes tendineux et des réponses plantaires en extension trop vifs) et une déficience intellectuelle modérée à sévère. Associé à un pronostic défavorable, ce sous-type représente l'extrémité sévère du spectre du syndrome L1."},"de":{"name":"Hydrozephalus mit Stenose des Aquaeductus Sylvii","synonyms":["Aquäduktstenose, X-chromosomale","Bickers-Adams-Syndrom","HSAS","HSAS, X-chromosomal","Hydrozephalus, X-chromosomaler","X-chromosomaler Hydrozephalus mit Aquäduktstenose"],"definition":"Ein angeborener X-chromosomaler klinischer Subtyp des L1-Syndroms, der durch einen schweren, oft pränatal beginnenden Hydrozephalus, adduzierte Daumen, Spastizität (meist durch lebhafte Sehnenreflexe und Fußstreckreflexe belegt) und eine mäßige bis schwere Intelligenzminderung gekennzeichnet ist. Dieser Subtyp stellt das schwere Ende des L1-Syndroms dar und ist mit einer schlechten Prognose verbunden."},"es":{"name":"Hidrocefalia con estenosis del acueducto de Silvio","synonyms":["Estenosis del acueducto ligada al cromosoma X","HSAS","HSAS ligada al cromosoma X","Hidrocefalia ligada al cromosoma X","Hidrocefalia ligada al cromosoma X con estenosis del acueducto de Silvio","Síndrome de Bickers-Adams"],"definition":"La hidrocefalia con estenosis del acueducto de Silvio (HSAS) es un término históricamente utilizado para describir un fenotipo considerado en la actualidad como parte del espectro clínico del síndrome L1 ligado al X (síndrome L1, consulte este término). La HSAS se caracteriza por una hidrocefalia grave en la mayoría de los casos de aparición prenatal, signos de hipertensión intracraneal, pulgares en abducción, espasticidad, y déficit intelectual grave. La HSAS representa el extremo grave del espectro y está asociado con un mal pronóstico."},"it":{"name":"Idrocefalo con stenosi dell'acquedotto di Silvio","synonyms":["HSAS","HSAS legato all'X","Idrocefalo legato all'X","Idrocefalo legato all'X con stenosi dell'acquedotto di Silvio","Sindrome di Bickers-Adams","Stenosi acqueduttale legata all'X"],"definition":"Con il termine idrocefalo da stenosi dell'acquedotto di Silvio (HSAS) si definisce storicamente un fenotipo che oggi si considera parte dello spettro clinico della sindrome L1 legata all'X (sindrome L1; si veda questo termine). L'HSAS è caratterizzato da idrocefalo grave, per lo più a esordio neonatale, segni di ipertensione intracranica, pollici addotti, spasticità e grave deficit cognitivo. L'HSAS è la forma più grave dello spettro e comporta una prognosi sfavorevole."},"nl":{"name":"Hydrocefalus met stenose van aquaduct van Sylvius","synonyms":["HSAS","Syndroom van Bickers-Adams","X-gebonden HSAS","X-gebonden aquaductale stenose","X-gebonden hydrocefalus","X-gebonden hydrocefalus met stenose van aquaduct van Sylvius"],"definition":"Een congenitaal, X-gebonden, klinisch subtype van L1-syndroom, gekarakteriseerd door ernstige hydrocefalie met vaak prenatale aanvang, geadduceerde duimen, spasticiteit (wat meestal blijkt uit snelle peesreflexen en voetzoolreflexen in extensie), en matige tot ernstige intellectuele achterstand. Dit subtype vertegenwoordigt het ernstige uiteinde van het spectrum van L1-syndroom en is geassocieerd met een slechte prognose."},"pt":{"name":"Hidrocéfalo com estenose do aqueduto de Sylvius","synonyms":["Estenose do aqueduto de Sylvius ligada ao X","Hidrocefalia ligada ao X"]},"pl":{"name":"Wodogłowie ze zwężeniem wodociągu Sylwiusza","synonyms":["HSAS","HSAS sprzeżony z chromosomem X","Wodogłowie sprzężone z chromosomem X","Wodogłowie ze zwężeniem wodociągu Sylwiusza sprzężone z chromosomem X","Zespół Bickersa i Adamsa","Zwężenie wodociągu sprzężone z chromosomem X"]},"cs":{"name":"Hydrocefalus se stenózou Sylviova mokovodu","synonyms":["HSAS","X-vázaný HSAS","X-vázaná stenóza mokovodu","X-vázaný hydrocefalus","X-vázaný hydrocefalus se stenózou Sylviova mokovodu","Bickersův-Adamsův syndrom","Bickers-Adamsův syndrom"]},"uk":{"name":"Гідроцефалія зі стенозом сільвієва водопроводу","synonyms":["Синдром Бікерса-Адамса","HSAS","Х-зчеплений акведуковий стеноз","Х-подібна система HSAS","Х-зчеплена гідроцефалія","Х-зчеплена гідроцефалія зі стенозом акведуку Сильвія"],"definition":"A congenital, X-linked, clinical subtype of L1 syndrome characterized by severe hydrocephalus often of prenatal onset, adducted thumbs, spasticity (mostly evidenced by brisk tendon reflexes and extensor plantar responses) and moderate to severe intellectual disability. This subtype represents the severe end of the L1 syndrome spectrum and is associated with poor prognosis."},"zh":{"name":"脑积水伴中脑导水管狭窄","synonyms":["X连锁中脑导水管狭窄"]},"tr":{"name":"Sylvius kanalının stenoz ile seyreden hidrosefalisi","synonyms":["HSAS","X'e bağlı HSAS","Bickers-Adams sendromu","X'e bağlı hidrosefali","X'e bağlı akueduktal stenoz","Sylvius akuadukt stenozu ile seyreden X'e bağlı hidrosefali"]}},"xrefs":[{"source":"OMIM","code":"307000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q03.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA04.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1284135636"},{"source":"MONDO","code":"0010611","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536078","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265216","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"434","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":275543,"name":"L1 syndrome","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"L1CAM","name":"L1 cell adhesion molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301657[PMID]","hgnc":"6470","ensembl":"ENSG00000198910","omim":"308840","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"Worldwide","status":"Not yet validated","source":"22344793[PMID]_20301657[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"Worldwide","status":"Not yet validated","source":"22344793[PMID]_20301657[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002410","label":"Aqueductal stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001331","label":"Absent septum pellucidum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}