{"orpha":141077,"name":"Epignathus","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Oropharyngeal teratoma"],"definition":"Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-141077/","orphanet_url":"https://www.orpha.net/en/disease/detail/141077","names":{"fr":{"name":"Tératome épignathe","synonyms":["Tératome oropharyngé mature"],"definition":"Le tératome épignathe est un tératome intrabuccal très rare et mettant en jeu le prognostic vital. Il est généralement issu de la mâchoire, de la mandibule, du palais ou de la base du crâne, et envahit le crâne, le nasopharynx ou la cavité orale. Il est plus fréquemment observé chez les individus féminins, et se manifeste par plusieurs signes (en fonction de la taille de la tumeur), incluant un polyhydramnios occlusif dans la période prénatale, ainsi qu'une dyspnée, une cyanose, une toux, des troubles de la succion et de la déglutition, et dans de rares cas, des vomissements (à cause des troubles de la déglutition) après la naissance. Lorsque le tératome est large, il peut conduire à l'obstruction des voies aériennes ou à une asphyxie. Il peut être fatal dans la période néonatale."},"de":{"name":"Epignathus"},"es":{"name":"Epignato","synonyms":["Teratoma orofaríngeo"],"definition":"Es un teratoma intraoral muy poco frecuente y potencialmente mortal que, por lo general, se origina en el maxilar, la mandíbula, el paladar o la base del cráneo e invade el cráneo, la nasofaringe o la cavidad oral. Es más frecuente en mujeres y presenta diversas manifestaciones (según el tamaño del tumor) que incluyen polihidramnios obstructivo en el período prenatal y disnea, cianosis, tos, dificultad para succionar y tragar y, ocasionalmente, vómitos postnatales (debido a las dificultades para tragar). Cuando son grandes, pueden provocar obstrucción de las vías aéreas, asfixia y muerte en el período neonatal."},"it":{"name":"Epignato","definition":"L'epignato è un teratoma intraorale molto raro, potenzialmente letale, che di solito origina dalla mascella, dalla mandibola, dal palato o dalla base del cranio e invade il cranio, il naso-faringe o la cavità orale. L'epignato è più comune nelle femmine ed esordisce con diversi segni clinici (a seconda delle dimensioni del tumore) che comprendono il polidramnios ostruttivo nel periodo prenatale e, dopo la nascita, la dispnea, la cianosi, la tosse, la difficoltà nella suzione e nella deglutizione e, raramente, il vomito (da difficoltà nella deglutizione). Se i tumori sono di grandi dimensioni, possono ostruire le vie aeree e causare asfissia e il decesso nel periodo neonatale."},"nl":{"name":"Epignathus","synonyms":["Orofaryngeaal teratoom"],"definition":"Epignathus is een zeer zeldzaam en levensbedreigend intra-oraal teratoom dat meestal ontstaat uit het bovenkaakbeen, het onderkaakbeen, het verhemelte of de schedelbasis, en infiltreert in de schedel, nasofarynx of mondholte. Epignathus wordt meer waargenomen bij vrouwen en doet zich voor met verscheidene manifestaties (afhankelijk van de omvang van de tumor) waaronder obstructieve polyhydramnion in de prenatale periode en postnataal dyspneu, cyanose, hoest, moeilijkheden met zuigen en slikken, en in zeldzame gevallen braken (vanwege de problemen met slikken). In geval van grote tumoren kan obstructie van de luchtwegen, asfyxie en overlijden tijdens de neonatale periode optreden."},"pt":{"name":"Epignato"},"pl":{"name":"Epignatus - guz z tkanek podniebienia","synonyms":["Potworniak ustno-gardłowy"]},"cs":{"name":"Epignathus","synonyms":["Orofaryngeální teratom"]},"uk":{"name":"Епігнатус","synonyms":["Тератома ротоглотки"],"definition":"Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period."},"zh":{"name":"上颌寄生胎畸胎","synonyms":["口咽畸胎瘤"],"definition":"上颌寄生胎畸胎是一种非常罕见且危及生命的口内畸胎瘤，通常发生于上颌骨、下颌骨、腭部或颅底，并侵犯颅骨、鼻咽或口腔。上颌寄生胎畸胎女性更常见，其表现形式多样（取决于肿瘤大小），包括产前梗阻性羊水过多、产后呼吸困难、紫绀、咳嗽和吮吸困难，但少有呕吐（由于吞咽困难）。肿瘤大时，会导致气道阻塞、窒息和新生儿期死亡。"},"tr":{"name":"Epignatus","synonyms":["Orofarengeal teratom"]}},"xrefs":[{"source":"ICD-10","code":"D37.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA70.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"7319064"},{"source":"MONDO","code":"0015386","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266725","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":883,"name":"Extragonadal teratoma","classifications":[202,233]},{"orpha":98061,"name":"Rare otorhinolaryngologic tumor","classifications":[200,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.0017,"area":"Worldwide","status":"Validated","source":"21701667[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.68,"area":"Worldwide","status":"Validated","source":"ORPHANET_21701667[PMID]"}],"phenotypes":null}