{"orpha":1234,"name":"Bartsocas-Papas syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive popliteal pterygium syndrome","Lethal popliteal pterygium syndrome"],"definition":"Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1234/","orphanet_url":"https://www.orpha.net/en/disease/detail/1234","names":{"fr":{"name":"Syndrome de Bartsocas-Papas","synonyms":["Syndrome de la bride poplitée autosomique récessif","Syndrome des ptérygiums poplités autosomique récessif","Syndrome létal de la bride poplitée","Syndrome létal de ptérygiums poplités"],"definition":"Le syndrome de Bartsocas-Papas est un syndrome des ptérygiums poplités rare et héréditaire, caractérisé par une microcéphalie, une palmature sévère du poplité, une oligosyndactylie, des anomalies génitales, un visage typique avec des fentes palpébrales courtes, un ankyloblépharon, un nez hypoplasique, des bandes filiformes entre les mâchoires et les fentes faciales, et d'autres anomalies ectodermiques (i.e. alopécie du cuir chevelu, des sourcils et des cils, anonychie). Le syndrome est souvent fatal pendant la période néonatale, mais il a été rapporté des patients survivant jusqu'à l'enfance."},"de":{"name":"Bartsocas-Papas-Syndrom","synonyms":["Popliteales Pterygium-Syndrom, autosomal-rezessives","Popliteales Pterygium-Syndrom, letaler Typ"]},"es":{"name":"Síndrome de Bartsocas-Papas","synonyms":["Síndrome de pterigium poplíteo autosómico recesivo","Síndrome de pterigium poplíteo letal"],"definition":"El síndrome de Bartsocas-Papas es un síndrome de pterigium poplíteo (véase este término) hereditario raro caracterizado por un gran pliegue membranoso en el hueco poplíteo, microcefalia, rasgos faciales típicos con fisuras palpebrales cortas, anquilobléfaron, nariz hipoplásica, bandas filiformes entre las mandíbulas y hendiduras faciales, oligosindactilia, anomalías en los genitales, y anomalías ectodérmicas adicionales (p. ej., ausencia de cabello, cejas, pestañas, uñas). Normalmente es mortal en el periodo neonatal, pero se han registrado casos de pacientes que sobreviven hasta la niñez."},"it":{"name":"Sindrome di Bartsocas-Papas","synonyms":["Sindrome dello pterigio popliteo, autosomica recessiva","Sindrome letale dello pterigio popliteo"],"definition":"La sindrome di Bartsocas-Papas è una sindrome ereditaria rara da pterigi poplitei (si veda questo termine), caratterizzata da importanti pliche cutanee poplitee, microcefalia, facies tipica con rime palpebrali brevi, anchiloblefaron, ipoplasia nasale, bande filiformi tra la mascella e la mandibola, le schisi facciali, l'oligosindattilia, le anomalie genitali e altre anomalie ectodermiche (ad es. l'assenza dei capelli, delle sopracciglia, delle ciglia, delle unghie). È spesso letale nel periodo neonatale, ma sono stati descritti pazienti sopravvisuti fino all'infanzia."},"nl":{"name":"Syndroom van Bartsocas-Papas","synonyms":["Autosomaal recessief popliteaal pterygium-syndroom","Letaal popliteaal pterygium-syndroom"],"definition":"Een zeldzaam, erfelijk popliteaal pterygiumsyndroom, gekarakteriseerd door ernstige popliteale webbing, microcefalie, typisch aangezicht met korte ooglidspleten, ankyloblefaron, hypoplastische neus, filiforme banden tussen kaken en aangezichtsspleten, oligosyndactylie, genitale afwijkingen, en bijkomende ectodermale anomalieën (i.e. afwezigheid van haar, wenkbrauwen, wimpers, nagels). Het is vaak fataal in de neonatale periode, maar er zijn meldingen van patiënten die overleven tot de kindertijd."},"pt":{"name":"Síndrome Bartsocas-Papas","synonyms":["Síndrome pterígio poplíteo autossómico recessivo","Síndrome pterígio poplíteo tipo letal"]},"pl":{"name":"Dysplazja uszno-kostna Bartsocasa i Papasa","synonyms":["Autosomalny recesywny zespół płetwistości podkolanowych","Letalny zespół płetwistości podkolanowych"]},"cs":{"name":"Bartsocasův-Papasův syndrom","synonyms":["Syndrom letálního popliteálního pterygia","Syndrom autozomálně recesivního popliteálního pterygia","Bartsocas-Papasův syndrom"]},"uk":{"name":"Синдром Бартсокаса-Папаса","synonyms":["Аутосомно-рецесивний синдром підколінного птеригіуму","Летальний синдром підколінного птеригіуму"],"definition":"Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported."},"zh":{"name":"Bartsocas-Papas综合征","synonyms":["常染色体隐性腘窝翼状赘蹼综合征"]},"tr":{"name":"Bartsocas-Papas sendromu","synonyms":["Letal popliteal piterjiyum sendromu","Otozomal çekinik popliteal piterjiyum sendromu"]}},"xrefs":[{"source":"OMIM","code":"263650","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619339","qualifier":"BTNT","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":"2004528416"},{"source":"MeSH","code":"C564874","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849718","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4436","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":79446,"name":"Multiple pterygium syndrome, Aslan type","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":471383,"name":"Genetic lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[156]},{"orpha":459787,"name":"Lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[147]},{"orpha":294963,"name":"Popliteal pterygium syndrome","classifications":[147,156,189,200,209]},{"orpha":98566,"name":"Syndromic eyelid coloboma","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"RIPK4","name":"receptor interacting serine/threonine kinase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22197488[PMID]_22197489[PMID]","hgnc":"496","ensembl":"ENSG00000183421","omim":"605706","loci":["21q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":24.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.15,"area":"Spain","status":"Validated","source":"1867261[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007418","label":"Alopecia totalis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009755","label":"Ankyloblepharon","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010185","label":"Aplasia/Hypoplasia of the distal phalanges of the toes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000050","label":"Hypoplastic male external genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000161","label":"Median cleft lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009756","label":"Popliteal pterygium","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200102","label":"Sparse or absent eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100240","label":"Synostosis of joints","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009777","label":"Absent thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000625","label":"Eyelid coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Occasional (29-5%)","criteria":null}]}}