{"orpha":141124,"name":"Congenital laryngeal cyst","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-141124/","orphanet_url":"https://www.orpha.net/en/disease/detail/141124","names":{"fr":{"name":"Kyste laryngé congénital","definition":"Anomalie rare du larynx caractérisée par un kyste touchant les zones du larynx ou de la supraglotte, telles que l'épiglotte et la vallécule. Le moment et la sévérité de la présentation dépendent de la taille du kyste et de sa proximité avec la glotte et varient de l'obstruction prénatale sévère des voies respiratoires entraînant un polyhydramnios et une hypoplasie pulmonaire au stridor inspiratoire post-natal associé à des pleurs étouffés, un enrouement et à des épisodes de cyanose, ainsi qu'à des difficultés à s'alimenter et à un retard de croissance. Il peut être associé à une laryngomalacie."},"de":{"name":"Larynxzyste, kongenitale","definition":"Die kongenitale Larynxzyste ist eine seltene Kehlkopfanomalie, die durch eine Zyste gekennzeichnet ist, die den Kehlkopf oder supraglottische Bereiche wie die Epiglottis und Vallecula betrifft. Zeitpunkt und Schweregrad hängen von der Größe der Zyste und ihrer Nähe zur Glottis ab und reichen von einer schweren pränatalen Atemwegsobstruktion, die zu Polyhydramnion und pulmonaler Hypoplasie führt, über einen postnatalen inspiratorischen Stridor mit dumpfem Schrei, Heiserkeit und zyanotischen Episoden bis hin zu Fütterungsproblemen und Gedeihstörungen. Eine Laryngomalazie kann assoziiert sein."},"es":{"name":"Quiste laríngeo congénito","definition":"Es una anomalía poco frecuente de la laringe caracterizada por un quiste que afecta a zonas de la laringe o supraglóticas, tales como la epiglotis y la vallécula. El momento y la gravedad de la presentación dependen del tamaño del quiste y de su proximidad a la glotis, y varían desde obstrucción prenatal grave de la vía aérea que conduce a polihidramnios e hipoplasia pulmonar hasta estridor inspiratorio postnatal asociado a llanto sordo, ronquera y episodios cianóticos, dificultades en la alimentación y fallo de medro. Puede asociarse a laringomalacia."},"it":{"name":"Cisti laringea congenita","definition":"La cisti laringea congenita è un'anomalia rara della laringe, caratterizzata dalla presenza di una cisti nella laringe o nella regione sopraglottidea (epiglottide e vallecula). I tempi e la gravità d'esordio dipendono dalle dimensioni della cisti e dalla sua vicinanza alla glottide; il quadro clinico è variabile e comprende l'ostruzione grave prenatale delle vie aeree, che esita nel polidramnios e nell'ipoplasia polmonare, fino allo stridore inspiratorio postnatale, in associazione con un pianto soffocato, raucedine ed episodi cianotici, difficoltà di alimentazione e ritardo dello sviluppo. Può essere presente laringomalacia."},"nl":{"name":"Congenitale laryngeale cyste","definition":"Congenitale laryngeale cyste is een zeldzame anomalie van het strottenhoofd, die wordt gekarakteriseerd door een cyste in de larynx of in supraglottische gebieden, zoals de epiglottis en de vallecula. De periode en de ernst van de presentatie hangen af van de omvang van de cyste en de nabijheid van de cyste tot de glottis, en gaan van ernstige prenatale obstructie van de luchtwegen die leidt tot polyhydramnion en pulmonale hypoplasie, tot postnatale inspiratoire stridor geassocieerd met gedempt gehuil, heesheid en episodes van cyanose, en tot voedingsproblemen en groeiachterstand. Het kan geassocieerd zijn met laryngomalacie."},"pt":{"name":"Quisto laríngeo congénito"},"pl":{"name":"Wrodzona torbiel krtani"},"cs":{"name":"Vrozená laryngeální cysta"},"uk":{"name":"Вроджена кіста гортані","definition":"Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia."},"zh":{"name":"先天性喉囊肿","definition":"先天性喉囊肿是一种罕见的喉畸形，其特征是囊肿累及喉部或声门上部位，如会厌和会厌谷。出现的时间和严重程度取决于囊肿的大小及其与声门的距离，可能表现为产前严重气道阻塞致羊水过多和肺发育不全，或产后吸气性喘鸣伴哭声低沉、声音嘶哑和发绀，或进食困难和体重增长不良。该病可能与喉软骨软化病相关。"},"tr":{"name":"Doğumsal laringeal kist"}},"xrefs":[{"source":"ICD-10","code":"Q31.8","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"LA71.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"591042640"},{"source":"MONDO","code":"0015396","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1393619","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19953","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":156249,"name":"Larynx anomaly","classifications":[147,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.8,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}