{"orpha":162516,"name":"Isolated congenital nasal pyriform aperture stenosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated apertura pyriformis stenosis","Isolated nasal pyriform aperture hypoplasia"],"definition":"A rare otorhinolaryngological malformation characterized by narrowing of the pyriform aperture (i. e. < 8 to 10 mm in a full-term infant) due to an overgrowth of the nasal process of the maxilla, resulting in potentially lethal nasal airway obstruction in the newborn. Depending on the degree of obstruction, clinical signs and symptoms include inspiratory stridor, respiratory distress, cyanosis, sternal retraction, ribcage asymmetry, and feeding difficulties.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-162516/","orphanet_url":"https://www.orpha.net/en/disease/detail/162516","names":{"fr":{"name":"Sténose congénitale isolée des orifices piriformes","synonyms":["Hypoplasie des orifices piriformes"],"definition":"Malformation othorinolaryngologique rare caractérisée par un rétrécissement de l'orifice pyriforme (i.e. < 8 à 10 mm chez un enfant né à terme) dû à une croissance excessive du processus nasal des os maxillaires, à l'origine d'une obstruction des voies respiratoires nasales, potentiellement létale chez le nouveau-né. Selon le degré d'obstruction, les signes cliniques et symptômes sont le stridor inspiratoire, la détresse respiratoire, la cyanose, le tirage sus-sternal, l'asymétrie de la cage thoracique et les difficultés à s'alimenter."},"de":{"name":"Stenose der Apertura piriformis, kongenitale, isolierte","definition":"Eine seltene otorhinolaryngologische Fehlbildung, die durch eine Verengung der pyriformen Öffnung (d. h. < 8 bis 10 mm bei einem voll entwickelten Säugling) aufgrund eines Überwachsens des Nasenfortsatzes des Oberkiefers gekennzeichnet ist und zu einer lebensbedrohlichen Obstruktion der nasalen Atemwege bei Neugeborenen führt. Je nach Ausmaß der Obstruktion sind die klinischen Anzeichen und Symptome inspiratorischer Stridor, Dyspnoe, Zyanose, Sternumeinziehung, Thoraxasymmetrie und Schwierigkeiten bei der Nahrungsaufnahme."},"es":{"name":"Estenosis aislada congénita de la apertura piriforme nasal","synonyms":["Estenosis aislada de la apertura piriforme","Hipoplasia aislada de apertura nasal piriforme"],"definition":"Es una malformación otorrinolaringológica poco frecuente caracterizada por el estrechamiento de la apertura piriforme (es decir, <8 a 10 mm en un recien nacido a término) debido a un sobrecrecimiento de la apófisis nasal del maxilar, resultando en una obstrucción de las vías respiratorias nasales potencialmente letal en el neonato. Según el grado de obstrucción, los signos y síntomas clínicos incluyen estridor inspiratorio, distrés respiratorio, cianosis, retracción esternal, asimetría de la caja torácica y dificultades en la alimentación."},"it":{"name":"Stenosi congenita e isolata dell'apertura piriforme del naso","synonyms":["Ipoplasia isolata degli orifizi piriformi nasali","Stenosi isolata degli orifizi piriformi"],"definition":"Si tratta di una malformazione rara di interesse otorinolaringoiatrico, caratterizzata dal restringimento dell'apertura piriforme (< 8-10 mm in un neonato a termine) secondaria all'iperaccrescimento del processo nasale della mascella, che esita in un'ostruzione potenzialmente letale delle vie aeree nasali nel neonato. I segni clinici dipendono dal grado di ostruzione e comprendono lo stridore inspiratorio, le difficoltà respiratorie, la cianosi, la retrazione dello sterno, l'asimmetria della gabbia toracica e le difficoltà di alimentazione."},"nl":{"name":"Geïsoleerde congenitale nasale pyriforme openingstenose","synonyms":["Geïsoleerde apertura pyriformis stenosis","Geïsoleerde nasale pyriforme openinghypoplasie"],"definition":"Een zeldzame otorinolaryngologische malformatie, gekarakteriseerd door vernauwing van apertura piriformis (i. e. kleiner dan 8 tot 10 mm bij een voldragen zuigeling) als gevolg van overgroei van processus nasalis van maxilla, wat resulteert in potentieel letale obstructie van nasale luchtwegen bij neonaten. Afhankelijk van de mate van obstructie zijn klinische verschijnselen en symptomen onder meer inspiratoire stridor, ademnood, cyanose, retractie van sternum, asymmetrie van ribbenkast, en voedingsproblemen."},"pt":{"name":"Estenose da abertura piriforme nasal congénita, isolada"},"pl":{"name":"Izolowane wrodzone zwężenie otworu gruszkowego nosa","synonyms":["Izolowana hipoplazja otworu gruszkowego nosa","Izolowane zwężenie otworu gruszkowego nosa"]},"cs":{"name":"Vrozená izolovaná stenóza apertura pyriformis","synonyms":["Izolovaná stenóza apertura pyriformis","Izolovaná hypoplázie apertura pyriformis"]},"uk":{"name":"Ізольований вроджений стеноз піраміди носової раковини","synonyms":["Ізольований стеноз пірамідного отвору діафрагми","Ізольована гіпоплазія носової піраміди"],"definition":"A rare otorhinolaryngological malformation characterized by narrowing of the pyriform aperture (i. e. < 8 to 10 mm in a full-term infant) due to an overgrowth of the nasal process of the maxilla, resulting in potentially lethal nasal airway obstruction in the newborn. Depending on the degree of obstruction, clinical signs and symptoms include inspiratory stridor, respiratory distress, cyanosis, sternal retraction, ribcage asymmetry, and feeding difficulties."},"zh":{"name":"单纯性先天性鼻梨状窝狭窄","synonyms":["孤立性鼻梨状孔发育不良"]},"tr":{"name":"İzole doğumsal nazal piriform açıklık stenozu","synonyms":["İzole apertura piriformis stenozu","İzole nazal apertura piriformis hipoplazisi"]}},"xrefs":[{"source":"ICD-10","code":"Q30.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA70.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"715305088"},{"source":"MONDO","code":"0015568","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3839990","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10089480","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":156246,"name":"Nose and cavum anomaly","classifications":[147,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[],"phenotypes":null}