{"orpha":141118,"name":"Nasal encephalocele","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-141118/","orphanet_url":"https://www.orpha.net/en/disease/detail/141118","names":{"fr":{"name":"Encéphalocèle nasale","definition":"L'encéphalocèle nasale est un engagement extra-crânien du contenu intracrânien (en maintenant une connexion à l'espace sous-arachnoïdien) dans le fonticulus frontalis. Elle se caractérise par un élargissement nasal et/ou une masse bleue pulsatile et compressible à côté du pont nasal (qui s'élargit pendant les pleurs ou la compression de la veine jugulaire), ou par une masse intranasale issue de la plaque cribriforme, et peut causer une obstruction nasale ou une détresse respiratoire. Une hydrocéphalie et une augmentation de la pression intracrânienne ont aussi été rapportées dans certains cas."},"de":{"name":"Enzephalozele, frontonasale"},"es":{"name":"Encefalocele nasal","definition":"Es una hernia extracraneal de contenidos intracraneales (que mantiene una conexión con el espacio subaracnoideo) en el fontículus frontalis. Se presenta con un ensanchamiento nasal y/o presencia de una masa pulsátil azulada y compresible cerca del puente nasal (que se agranda con llanto o por compresión de la vena yugular) o como una masa intranasal que se origina en la placa cribiforme y que puede causar obstrucción nasal o dificultad respiratoria. En algunos casos también se ha descrito hidrocefalia y aumento de la presión intracraneal."},"it":{"name":"Encefalocele nasale","definition":"L'encefalocele nasale è un'erniazione extracranica dei contenuti intracranici (che mantengono una connessione con lo spazio subaracnoideo) nel fonticulus frontalis, che si manifesta con l'allargamento del naso e/o con una massa comprimile blu e pulsante vicino alla sella nasale (che si allarga durante il pianto o la compressione della vena giugulare), oppure sotto forma di una massa intranasale che origina nella lamina cribriforme e può causare l'ostruzione nasale o il distress respiratorio. In alcuni casi sono presenti idrocefalo ed un aumento della pressione intracranica."},"nl":{"name":"Nasale encefalocele","definition":"Nasale encefalocèle is een extracraniële herniatie met intracraniële inhoud (die in verbinding blijft met de subarachnoïdale ruimte) in de <i>fonticulus frontalis</i> (grote fontanel), die zich manifesteert met een verbreding van de neus en/of als een samendrukbare, blauwe, pulserende massa nabij de neusbrug (die vergroot bij huilen of compressie van de vena jugularis (halsader)), of als een intranasale massa die voortkomt uit de zeefplaat van het zeefbeen en die nasale obstructie of ademnood kan veroorzaken. In sommige gevallen werden ook hydrocefalus en verhoogde intracraniële druk gerapporteerd."},"pt":{"name":"Encefalocelo nasal"},"pl":{"name":"Przepuklina mózgowa nosowa"},"cs":{"name":"Nazální encefalokéla"},"uk":{"name":"Назальне енцефалоцеле","definition":"Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases."},"zh":{"name":"鼻部脑膨出","definition":"鼻部脑膨出是颅内内容物（该物质与蛛网膜下腔保持连接）进入前囟形成颅外疝，表现为鼻腔增宽和/或鼻梁附近可压缩、蓝色、搏动性肿块（哭啼时增大，可伴颈静脉受压），或呈起源于筛骨板的鼻内肿块，可引起鼻塞或呼吸窘迫。脑积水和颅内压增高在一些病例中也有报道。"},"tr":{"name":"Nazal ensefalosel"}},"xrefs":[{"source":"ICD-10","code":"Q01.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"884932601"},{"source":"MONDO","code":"0015394","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0014066","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19951","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":199647,"name":"Isolated encephalocele","classifications":[147,156,181]},{"orpha":156246,"name":"Nose and cavum anomaly","classifications":[147,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":[],"prevalence":[],"phenotypes":null}