{"orpha":137935,"name":"Airway infantile hemangioma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Airway infantile haemangioma","Laryngotracheal angioma"],"definition":"A rare benign vascular tumor characterized by rapid growth after birth (followed by spontaneous partial regression over the course of years), potentially leading to life-threatening airway obstruction due to the subglottic location. Patients present with respiratory symptoms including biphasic stridor, recurrent croup, cyanosis, apnea, and sternal and intercostal retractions. The tumor may be accompanied by cutaneous hemangiomata, especially in the lower facial (\"beard\") distribution.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137935/","orphanet_url":"https://www.orpha.net/en/disease/detail/137935","names":{"fr":{"name":"Hémangiome infantile des voies respiratoires","synonyms":["Angiome laryngotrachéal"],"definition":"Tumeur vasculaire bénigne rare caractérisée par une croissance rapide après la naissance (suivie d'une régression partielle spontanée au cours des années), pouvant entraîner une obstruction des voies respiratoires potentiellement létale en raison de sa localisation sous-glottique. Les patients manifestent des symptômes respiratoires, notamment un stridor biphasique, un croup récurrent, une cyanose, une apnée et des tirages sternaux et intercostaux. La tumeur peut s'accompagner d'hémangiomes cutanés, notamment dans la partie inférieure du visage (région dite de la barbe)."},"de":{"name":"Infantiles Hämangiom der Atemwege","synonyms":["Angiom, laryngotracheales"],"definition":"Ein seltener gutartiger vaskulärer Tumor, der sich nach der Geburt durch schnelles Wachstum auszeichnet (gefolgt von einer spontanen teilweisen Rückbildung im Laufe der Jahre) und aufgrund der subglottischen Lage zu einer lebensbedrohlichen Atemwegsobstruktion führen kann. Die Patienten präsentieren sich mit respiratorischen Symptomen wie biphasischem Stridor, rezidivierendem Krupp, Zyanose, Apnoe und sternalen und interkostalen Retraktionen. Der Tumor kann von kutanen Hämangiomen begleitet sein, die vor allem im unteren Gesichtsbereich (\"Bart\") auftreten."},"es":{"name":"Hemangioma infantil de las vías respiratorias","synonyms":["Angioma laringotraqueal"],"definition":"Es un tumor vascular benigno poco frecuente caracterizado por un crecimiento rápido después del nacimiento (seguido de una regresión parcial espontánea con el transcurso de los años), que puede conducir a una obstrucción potencialmente mortal de las vías respiratorias debido a la localización subglótica. Los pacientes se presentan con síntomas respiratorios, incluyendo estridor bifásico, tos recurrente, cianosis, apnea y retracción esternal e intercostal. El tumor puede ir acompañado de hemangiomas cutáneos, especialmente en la parte inferior facial (\"barba\")."},"it":{"name":"Emangioma infantile delle vie aeree","synonyms":["Angioma laringotracheale","Emangioma infantile delle vie aeree"],"definition":"Si tratta di un tumore vascolare benigno raro, caratterizzato da rapida crescita dopo la nascita (seguita da una regressione parziale spontanea nel corso degli anni), che può associarsi ad un'ostruzione potenzialmente letale delle vie aeree in ragione della localizzazione sottoglottica. I pazienti presentano sintomi respiratori che comprendono lo stridore bifasico, la laringotracheobronchite ricorrente, la cianosi, le apnee e la retrazione dello sterno e intercostale. Il tumore può associarsi ad emangiomi cutanei, in particolare nella porzione inferiore del viso (distribuzione ''a barba'')."},"nl":{"name":"Infantiel hemangioom van luchtwegen","synonyms":["Laryngotracheaal angioom"],"definition":"Een zeldzame goedaardige tumor van bloedvat, gekarakteriseerd door snelle groei na de geboorte (gevolgd door spontane partiële regressie gedurende meerdere jaren), mogelijk met levensbedreigende obstructie van luchtwegen tot gevolg vanwege de subglottische locatie. Patiënten presenteren zich met respiratoire symptomen waaronder bifasische stridor, recidiverende kroep, cyanose, apneu, en retractie van sternum en intercostale retracties. De tumor kan gepaard gaan met cutane hemangiomen, vooral in onderste deel van aangezicht (\"baard-verdeling\")."},"pt":{"name":"Angioma laringotraqueal"},"pl":{"name":"Naczyniak krtaniowo-tchawiczy","synonyms":["Airway infantile haemangioma","Laryngotracheal angioma"]},"cs":{"name":"Laryngotracheální angiom","synonyms":["Airway infantile haemangioma","Laryngotracheal angioma"]},"uk":{"name":"Інфантильна гемангіома дихальних шляхів","synonyms":["Ангіома ларинготрахеальної артерії"],"definition":"A rare benign vascular tumor characterized by rapid growth after birth (followed by spontaneous partial regression over the course of years), potentially leading to life-threatening airway obstruction due to the subglottic location. Patients present with respiratory symptoms including biphasic stridor, recurrent croup, cyanosis, apnea, and sternal and intercostal retractions. The tumor may be accompanied by cutaneous hemangiomata, especially in the lower facial (\"beard\") distribution."},"zh":{"name":"喉气管血管瘤"},"tr":{"name":"Laringotrakeal anjiyom"}},"xrefs":[{"source":"ICD-10","code":"D18.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015317","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3274531","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19893","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":156249,"name":"Larynx anomaly","classifications":[147,200]},{"orpha":210589,"name":"Rare infantile hemangioma","classifications":[147,198,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-25","source":"29706817[PMID]_21880377[PMID]","terms":[{"hpo":"HP:0010307","label":"Stridor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030864","label":"Intercostal retractions","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000329","label":"Facial hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030828","label":"Wheezing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Very rare (<4-1%)","criteria":null}]}}