{"orpha":2373,"name":"Congenital laryngomalacia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare larynx anomaly characterized by an inward collapse of supraglottic airway during inspiration, which manifests with an inspiratory stridor and might be associated with feeding difficulties, swallowing dysfunction, failure to thrive, and respiratory distress.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2373/","orphanet_url":"https://www.orpha.net/en/disease/detail/2373","names":{"fr":{"name":"Laryngomalacie congénitale","definition":"Anomalie rare du larynx caractérisée par un collapsus intérieur des tissus supra-glottiques des voies respiratoires pendant l'inspiration, qui se manifeste par un stridor inspiratoire et qui peut être associé à des difficultés à s'alimenter, des troubles de la déglutition, un retard de croissance et une détresse respiratoire."},"de":{"name":"Laryngomalazie, kongenitale","definition":"Eine seltene Kehlkopfanomalie, die durch einen nach innen gerichteten Kollaps der supraglottischen Atemwege während der Einatmung gekennzeichnet ist, der sich durch einen inspiratorischen Stridor äußert und mit Fütterungsschwierigkeiten, Schluckstörungen, Gedeihstörungen und Atemnot verbunden sein kann."},"es":{"name":"Laringomalacia dominante congénita","definition":"Es una anomalía laríngea poco frecuente caracterizada por un colapso interno de la vía aérea supraglótica durante la inspiración. La anomalía se manifiesta con estridor inspiratorio y puede estar asociada a dificultades para alimentarse, disfunción de la deglución, fallo de medro y distrés respiratorio."},"it":{"name":"Laringomalacia congenita","definition":"È un'anomalia rara della laringe caratterizzata dal collasso verso l'interno durante l'inspirazione della via aerea sopraglottica, che esordisce con stridore inspiratorio, e può associarsi a difficoltà di alimentazione e deglutizione, ritardo della crescita e distress respiratorio."},"nl":{"name":"Congenitale laryngomalacie","definition":"Een zeldzame anomalie van de larynx die gekarakteriseerd wordt door inwaarts inklappen van de supraglottische luchtweg tijdens inademing, die zich manifesteert met een inspiratoire stridor, en die kan geassocieerd zijn met voedingsproblemen, slikdisfunctie, groeiachterstand, en ademnood."},"pt":{"name":"Laringomalacia congénita"},"pl":{"name":"Wrodzona wiotkość krtani"},"cs":{"name":"Vrozená laryngomalacie"},"uk":{"name":"Вроджена ларингомаляція","definition":"A rare larynx anomaly characterized by an inward collapse of supraglottic airway during inspiration, which manifests with an inspiratory stridor and might be associated with feeding difficulties, swallowing dysfunction, failure to thrive, and respiratory distress."},"zh":{"name":"先天性喉软化症"},"tr":{"name":"Doğumsal laringomalazi"}},"xrefs":[{"source":"OMIM","code":"150280","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q31.5","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA71.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"64182721"},{"source":"MONDO","code":"0007878","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D055092","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0345160","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6865","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10060786","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":435609,"name":"Genetic larynx anomaly","classifications":[156]},{"orpha":156249,"name":"Larynx anomaly","classifications":[147,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-5 / 10 000","value":40.0,"area":"Worldwide","status":"Validated","source":"31334986[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Frequent (79-30%)","criteria":null}]}}