{"orpha":2257,"name":"Primary pulmonary hypoplasia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congenital malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2257/","orphanet_url":"https://www.orpha.net/en/disease/detail/2257","names":{"fr":{"name":"Hypoplasie pulmonaire primitive","definition":"Un trouble génétique rare et isolé du développement, survenant pendant l'embryogenèse. Il se caractérise par une malformation congénitale du parenchyme pulmonaire, en l'absence d'autres anomalies. Pendant la période néonatale, les patients présentent des bruits respiratoires atténués, un petit volume pulmonaire et une détresse respiratoire sévère, ne répondant pas au traitement agressif (incluant l'instillation d'un surfactant/une aide respiratoire mécanique). La maladie est habituellement incompatible avec la vie."},"de":{"name":"Pulmonale Hypoplasie, primäre","definition":"Die primäre pulmonale Hypoplasie ist ein seltener, isolierter, genetischer Entwicklungsdefekt während der Embryogenese, der durch eine kongenitale Fehlbildung des Lungenparenchyms bei Fehlen anderer Anomalien gekennzeichnet ist. Neonatal präsentieren sich die Patienten mit verminderten Atemgeräuschen, kleinem Lungenvolumen und schwerer Atemnot, die auf aggressive Behandlung (einschließlich Surfactant-Instillation/ mechanische Atemunterstützung) nicht anspricht. Sie ist in der Regel nicht mit dem Leben vereinbar."},"es":{"name":"Hipoplasia pulmonar primaria","definition":"Es un defecto genético, aislado y poco frecuente del desarrollo durante la embriogénesis, caracterizada por la malformación congénita del parénquima pulmonar en ausencia de otras anomalías. Al nacimiento, los afectados presentan disminución de ruidos respiratorios, volumen pulmonar pequeño y grave distress respiratorio que no responde a tratamientos agresivos (incluida la instilación de surfactante/soporte respiratorio mecánico). Por lo general, no es compatible con la vida."},"it":{"name":"Ipoplasia polmonare primitiva","definition":"L'ipoplasia polmonare primitiva è un difetto genetico raro isolato dello sviluppo dell'embrione, caratterizzato da una malformazione congenita del parenchima polmonare, in assenza di altre anomalie. I neonati presentano diminuzione dei rumori respiratori, ridotto volume polmonare e grave distress respiratorio che non risponde ai trattamenti aggressivi (instillazione di tensioattivi/ventilazione meccanica). La malattia di solito è letale."},"nl":{"name":"Primaire pulmonale hypoplasie","definition":"Primaire pulmonale hypoplasie is een zeldzaam, geïsoleerd, genetisch ontwikkelingsdefect tijdens de embryogenese en wordt gekarakteriseerd door congenitale malformatie van longparenchym zonder andere anomalieën. Neonataal vertonen patiënten verminderde ademhalingsgeluiden, klein longvolume en ernstige ademnood die niet reageert op agressieve behandeling (inclusief instillatie van surfactant (oppervlakte-actieve stof)/mechanische ondersteuning van de ademhaling). Het is meestal niet levensvatbaar."},"pt":{"name":"Hipoplasia pulmonar primária"},"pl":{"name":"Rodzinna pierwotna hipoplazja płuc"},"cs":{"name":"Primární familiární hypoplázie plic"},"uk":{"name":"Первинна гіпоплазія легень","definition":"Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congenital malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life."},"zh":{"name":"原发性肺发育不良"},"tr":{"name":"Primer pulmoner hipoplazi"}},"xrefs":[{"source":"OMIM","code":"265430","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q33.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA75.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1778475393"},{"source":"MONDO","code":"0009936","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"9936","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0456891","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":2258,"name":"OBSOLETE: Congenital unilateral pulmonary hypoplasia","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183622,"name":"Genetic respiratory malformation","classifications":[156]},{"orpha":108993,"name":"Non-syndromic respiratory or mediastinal malformation","classifications":[147,156,186]},{"orpha":182111,"name":"Respiratory malformation","classifications":[184]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"27374786[PMID]_30828993[PMID]_30413314[PMID]_30639323[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"27374786[PMID]_30828993[PMID]_30413314[PMID]_30639323[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-17","source":"30639323[PMID]_30413314[PMID]_30828993[PMID]_27374786[PMID]_608831[PMID]","terms":[{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0030829","label":"Abnormal breath sound","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012418","label":"Hypoxemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002789","label":"Tachypnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040045","label":"Abnormal hemidiaphragm morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002778","label":"Abnormal trachea morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001651","label":"Dextrocardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003065","label":"Patellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001684","label":"Secundum atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030966","label":"Abnormal pulmonary artery morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002107","label":"Pneumothorax","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000071","label":"Ureteral stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0032094","label":"Increased circulating surfactant protein level","frequency":"Excluded (0%)","criteria":null}]}}