{"orpha":99141,"name":"Lymphedema-posterior choanal atresia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic disease characterized by choanal atresia and early onset of lymphedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99141/","orphanet_url":"https://www.orpha.net/en/disease/detail/99141","names":{"fr":{"name":"Syndrome de lymphoedème-atrésie postérieure des choanes","synonyms":["Syndrome d'atrésie choanale postérieure-lymphoedème"],"definition":"Maladie génétique rare caractérisée par une atrésie des choanes et l'apparition précoce d'un lymphoedème des membres inférieurs. Parmi les autres caractéristiques rapportées figurent notamment une dysmorphie faciale (hypertélorisme, front proéminent, philtrum lisse, implantation unilatérale de l'oreille et un palais ogival), des mamelons hypoplasiques et un pectus excavatum."},"de":{"name":"Lymphödem-posteriore Choanalatresie-Syndrom","definition":"Eine seltene genetische Erkrankung, die durch eine Choanalatresie und ein frühes Auftreten von Lymphödemen der unteren Extremitäten gekennzeichnet ist. Zu den zusätzlich berichteten Merkmalen gehören Gesichtsdysmorphien (Hypertelorismus, breite Stirn, glattes Philtrum, einseitig tief angesetztes Ohr und hochgewölbter Gaumen), hypoplastische Brustwarzen und Pectus excavatum."},"es":{"name":"Atresia posterior de coanas-síndrome de linfedema","definition":"Es una enfermedad de base genética poco frecuente caracterizada por atresia de coanas y linfedema de las extremidades inferiores de inicio precoz. Otras características descritas incluyen dismorfia facial (hipertelorismo, frente amplia, filtrum liso, orejas de baja implantación de forma unilateral y paladar ojival), mamilas hipoplásicas y pectus excavatum."},"it":{"name":"Sindrome linfedema-atresia posteriore delle coane","definition":"Si tratta di una malattia genetica rara, caratterizzata da atresia delle coane e linfedema degli arti inferiori ad esordio precoce. I pazienti possono presentare anche dismorfismi facciali (ipertelorismo, fronte ampia, filtro liscio, basso impianto di un padiglione auricolare, palato ogivale), capezzoli ipoplastici e pectus excavatum."},"nl":{"name":"Lymfoedeem - posterieure choane atresie-syndroom","definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door choanale atresie en vroeg aanvangend lymfoedeem van onderste ledematen. Bijkomende kenmerken die werden gerapporteerd, zijn onder meer faciale dysmorfie (hypertelorisme, breed voorhoofd, glad filtrum, unilateraal laagstaand oor, en hoog gebogen verhemelte), hypoplastische tepels, en pectus excavatum."},"pt":{"name":"Síndrome Atresia posterior das coanas - linfedema"},"pl":{"name":"Zespół atrezja nozdrzy tylnych - obrzęk limfatyczny"},"cs":{"name":"Syndrom zahrnující lymfedém a zadní atrézii choan"},"uk":{"name":"Синдром лімфедеми-задньої атрезії хоан","definition":"A rare genetic disease characterized by choanal atresia and early onset of lymphedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum."},"zh":{"name":"淋巴水肿-后鼻孔闭锁综合征"},"tr":{"name":"Lenfödem-posterior koanal atrezi sendromu"}},"xrefs":[{"source":"OMIM","code":"613611","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013324","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3150875","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":435606,"name":"Genetic nose and cavum anomaly","classifications":[156]},{"orpha":289825,"name":"Late-onset primary lymphedema without systemic or visceral involvement","classifications":[147,156,187,198]},{"orpha":156246,"name":"Nose and cavum anomaly","classifications":[147,200]}],"children":[],"genes":[{"symbol":"PTPN14","name":"protein tyrosine phosphatase non-receptor type 14","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20826270[PMID]","hgnc":"9647","ensembl":"ENSG00000152104","omim":"603155","loci":["1q32.3-q41"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"20826270[PMID] _DOI:10.1016/j.mgene.2017.07.006[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20826270[PMID]"}],"phenotypes":null}