{"orpha":95430,"name":"Congenital tracheomalacia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital major airway collapse"],"definition":"Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-95430/","orphanet_url":"https://www.orpha.net/en/disease/detail/95430","names":{"fr":{"name":"Trachéomalacie congénitale","definition":"La trachéomalacie congénitale est un trouble rare qui se manifeste par une trachée souple et flexible induisant un effondrement de la paroi trachéale pendant l'expiration, une toux ou des pleurs, et affectant généralement les nouveau-nés. Elle se caractérise par une respiration aigüe et bruyante, ou par des infections des voies respiratoires supérieures. La trachéomalacie s'améliore à l'âge de 18-24 mois."},"de":{"name":"Tracheomalazie, kongenitale","synonyms":["Trachealkollaps, kongenitaler"],"definition":"Als Kongenitale Tracheomalazie wird eine seltene Störung mit weicher und verformbarer Trachea bezeichnet. Als Folge kommt es, meist im Säuglingsalter, zum Kollaps der Tracheawand beim Ausatmen, Husten oder Schreien. Charakteristisch sind Stridor, Atemgeräusche und Infektionen der oberen Luftwege. Im Alter von 18-24 Monaten bildet sich die Tracheomalazie zurück."},"es":{"name":"Traqueomalacia congénita","synonyms":["Colapso congénito grave de las vías respiratorias"],"definition":"La traqueomalacia congénita es una enfermedad poco frecuente en la que la tráquea es flácida y flexible causando que las paredes de la misma colapsen al exhalar, toser o llorar. Normalmente se presenta en la infancia y se caracteriza por estridor y respiración ruidosa o infecciones de las vías respiratorias altas. La traqueomalacia mejora a los 18-24 meses de edad."},"it":{"name":"Tracheomalacia congenita","synonyms":["Collasso grave congenito delle vie respiratorie"],"definition":"La tracheomalacia congenita è una malattia rara, caratterizzata da trachea molle e flessibile, che causa il collasso della parete tracheale durante l'espirazione, la tosse o il pianto. Di solito è presente alla nascita. È caratterizzata da stridore e respirazione rumorosa eventualmente associata ad infezioni delle vie respiratorie superiori. La tracheomalacia migliora verso i 18-24 mesi di vita."},"nl":{"name":"Congenitale tracheomalacie","synonyms":["Congenitale ernstige collaps van luchtwegen"],"definition":"'Congenitale tracheomalacie is een zeldzame aandoening waarbij de luchtpijp zacht en flexibel is, waardoor de wand van de luchtpijp inklapt bij het uitademen, hoesten of wenen; de aandoening manifesteert zich meestal tijdens de zuigelingentijd en wordt gekarakteriseerd door stridor en luidruchtige ademhaling of infecties aan de bovenste luchtwegen. Tracheomalacie verbetert tegen de leeftijd van 18-24 maanden.'"},"pt":{"name":"Traqueomalacia congénita"},"pl":{"name":"Wrodzone rozmiękanie tchawicy","synonyms":["Wrodzona tracheomalacja"]},"cs":{"name":"Vrozená tracheomalacie","synonyms":["Vrozený kolaps velkých dýchacích cest"]},"uk":{"name":"Вроджена трахеомаляція","synonyms":["Вроджений колапс великих дихальних шляхів"],"definition":"Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months."},"zh":{"name":"先天性气管软化","synonyms":["先天性主气道塌陷"],"definition":"先天性气管软化症是一种罕见的疾病，气管软化、活动度增加，导致呼气、咳嗽或哭泣时气管壁塌陷，通常出现在婴儿期，其特点是喘鸣和呼吸嘈杂或上呼吸道感染。气管软化在18-24个月大时会改善。"},"tr":{"name":"Doğumsal trakeomalazi","synonyms":["Doğumsal majör hava yolu çökmesi"]}},"xrefs":[{"source":"ICD-10","code":"Q32.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA73.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1616705280"},{"source":"MONDO","code":"0019804","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19804","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C557675","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0392109","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10515","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10010654","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":435612,"name":"Genetic tracheal anomaly","classifications":[156]},{"orpha":108993,"name":"Non-syndromic respiratory or mediastinal malformation","classifications":[147,156,186]},{"orpha":182111,"name":"Respiratory malformation","classifications":[184]},{"orpha":156252,"name":"Tracheal anomaly","classifications":[147,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["No data available"],"onset":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-20","source":"31985984[PMID]_30426955[PMID]","terms":[{"hpo":"HP:0004468","label":"Anomalous tracheal cartilage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002779","label":"Tracheomalacia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032355","label":"Decreased peak expiratory flow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010307","label":"Stridor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030828","label":"Wheezing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030966","label":"Abnormal pulmonary artery morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000973","label":"Cutis laxa","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002032","label":"Esophageal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030864","label":"Intercostal retractions","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001686","label":"Loss of voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032177","label":"Parenchymal consolidation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002107","label":"Pneumothorax","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031245","label":"Productive cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002110","label":"Bronchiectasis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002780","label":"Bronchomalacia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011590","label":"Double aortic arch","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002097","label":"Emphysema","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010773","label":"Partial anomalous pulmonary venous return","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012020","label":"Right aortic arch","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001750","label":"Single ventricle","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002786","label":"Tracheobronchomalacia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very rare (<4-1%)","criteria":null}]}}