{"orpha":1300,"name":"Autosomal dominant popliteal pterygium syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Facio-genito-popliteal syndrome","Popliteal web syndrome"],"definition":"A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1300/","orphanet_url":"https://www.orpha.net/en/disease/detail/1300","names":{"fr":{"name":"Syndrome des ptérygiums poplités autosomique dominant","synonyms":["Syndrome de la bride poplitée","Syndrome facio-génito-poplité"],"definition":"Syndrome génétique rare d'anomalies congénitales multiples caractérisé par une fente labiale, avec ou sans fente palatine, des fosses au niveau de la lèvre inférieure, des contractures des membres inférieurs, des anomalies affectant les organes génitaux externes, une syndactylie des doigts et/ou des orteils, et un pli cutané pyramidal au-dessus de l'ongle de l'hallux."},"de":{"name":"Popliteales Pterygium-Syndrom, autosomal-dominantes","definition":"Ein seltenes genetisches Syndrom mit multiplen kongenitalen Anomalien, das durch Lippenspalten mit oder ohne Gaumenspalte, Grübchen in der Unterlippe, Kontrakturen der unteren Extremitäten, abnorme äußere Genitalien, Syndaktylie der Finger und/oder Zehen und eine pyramidenförmige Hautfalte über dem Hallux-Nagel gekennzeichnet ist."},"es":{"name":"Síndrome de pterigium poplíteo autosómico dominante","definition":"Es un síndrome malformativo múltiple de carácter genético y poco frecuente caracterizado por labio leporino, con o sin fisura palatina, hoyuelos en el labio inferior, contracturas de las extremidades inferiores, genitales externos anómalos, sindactilia de los dedos de las manos y/o pies y un pliegue cutáneo piramidal sobre la uña del 1er dedo del pie."},"it":{"name":"Sindrome dello pterigio popliteo autosomica dominante","synonyms":["Sindrome della briglia poplitea"],"definition":"La sindrome dello pterigio popliteo autosomica dominante (AD-PPS) è una malattia genetica rara da anomalie congenite multiple, caratterizzata da labioschisi, con o senza palatoschisi, fossette sul labbro inferiore, contratture degli arti inferiori, anomalie dei genitali esterni, sindattilia delle dita delle mani e/o dei piedi, e la presenza di una plica cutanea di forma piramidale sopra l'unghia dell'alluce."},"nl":{"name":"Autosomaal dominant popliteaal pterygium-syndroom","synonyms":["Faciogenitopopliteaal syndroom","Popliteaal web-syndroom"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën, gekarakteriseerd door gespleten lip, met of zonder gespleten verhemelte, kuiltjes in de onderlip, contracturen van de onderste ledematen, abnormale uitwendige geslachtsorganen, syndactylie van vingers en/of tenen, en een piramidale huidplooi over de nagel van de grote teen."},"pt":{"name":"Síndrome pterígio poplíteo autossómico dominante","synonyms":["Síndrome teia poplítea"]},"pl":{"name":"Autosomalny dominujący zespół skrzydlik podkolanowych","synonyms":["Zespół płetwistości podkolanowej","Zespół twarzowo-płciowo-podkolanowy"]},"cs":{"name":"Syndrom popliteálních řas","synonyms":["Faciogenitopopliteální syndrom","Syndrom popliteálních blan","Autozomálně dominantní syndrom popliteálních pterygií"]},"uk":{"name":"Аутосомно-домінантний синдром підколінного птеригіуму","synonyms":["Лицьово-геніто-поплітеальний синдром","Синдром підколінної ямки"],"definition":"A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail."},"zh":{"name":"常染色体显性遗传腘翼综合征","synonyms":["面-生殖器-腘窝综合征"]},"tr":{"name":"Otozomal dominant popliteal piterjiyum sendromu","synonyms":["Popliteal web sendromu","Fasiyo-genito-popliteal sendromu"]}},"xrefs":[{"source":"OMIM","code":"119500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.4Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2069589860"},{"source":"MONDO","code":"0007334","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5848052","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":294963,"name":"Popliteal pterygium syndrome","classifications":[147,156,189,200,209]}],"children":[],"genes":[{"symbol":"IRF6","name":"interferon regulatory factor 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301581[PMID]","hgnc":"6121","ensembl":"ENSG00000117595","omim":"607199","loci":["1q32.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009755","label":"Ankyloblepharon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009754","label":"Fibrous syngnathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000059","label":"Hypoplastic labia majora","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100267","label":"Lip pit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008288","label":"Nonketotic hyperglycinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009756","label":"Popliteal pterygium","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Occasional (29-5%)","criteria":null}]}}