{"orpha":79447,"name":"X-linked lethal multiple pterygium syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"X-linked lethal multiple pterygium syndrome is a rare, genetic, developmental defect during embryogenesis characterized by the typical lethal multiple pterygium syndrome presentation (comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or fetal hydrops, skeletal abnormalities and fetal death in the 2nd or 3rd trimester) with an X-linked pattern of inheritance.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79447/","orphanet_url":"https://www.orpha.net/en/disease/detail/79447","names":{"fr":{"name":"Forme létale liée à l'X du syndrome des ptérygiums multiples","definition":"Une anomalie génétique rare du développement survenant au cours de l'embryogenèse. Elle se caractérise par la présentation classique, létale du syndrome des ptérygiums multiples (ptérygiums multiples, arthrogrypose sévère, fente palatine, hygroma kystique et/ou anasarque foeto-placentaire, anomalies squelettiques et mort foetale au cours du 2è ou 3è trimestre de grossesse), avec un mode de transmission lié au chromosome X."},"de":{"name":"Multiples Pterygium-Syndrom, letales, X-chromosomales","definition":"Ein seltener, genetischer Entwicklungsdefekt während der Embryogenese, der durch die typische Präsentation des letalen multiplen Pterygium-Syndroms (bestehend aus multiplen Pterygien, schwerer Arthrogrypose, Gaumenspalte, zystischen Hygromata und/oder fetalem Hydrops, Skelettanomalien und fetalem Tod im zweiten oder dritten Trimester) mit einem X-chromosomalen Vererbungsmuster gekennzeichnet ist."},"es":{"name":"Síndrome de pterigium múltiple letal ligado al cromosoma X","definition":"El síndrome de pterigium múltiple letal ligado a X, es un defecto del desarrollo embrionario, genético y poco frecuente. Se caracteriza por la típica presentación del síndrome de pterigium múltiple letal, que comprende pterigia múltiple, artrogriposis grave, paladar hendido, higroma quístico y / o hidropesía fetal, anomalías esqueléticas y muerte fetal en el segundo o tercer trimestre) con un patrón de herencia ligado al cromosoma X."},"it":{"name":"Sindrome letale degli pterigi multipli legata all'X","definition":"La sindrome letale da pterigi multipli legata all'X è un difetto genetico raro dello sviluppo dell'embrione, caratterizzato da un quadro clinico caratteristico (pterigi multipli, grave artrogriposi, palatoschisi, igromi cistici e/o idrope fetale, anomalie scheletriche e morte del feto nel secondo o terzo trimestre), a trasmissione legata all'X."},"nl":{"name":"X-gebonden letaal multipele pterygium-syndroom","definition":"X-gebonden letaal meervoudig pterygiumsyndroom is een zeldzaam, genetisch ontwikkelingsdefect tijdens de embryogenese dat gekarakteriseerd wordt door het typisch beeld van letaal meervoudig pterygiumsyndroom (bestaande uit meervoudige pterygia, ernstige artrogrypose, gespleten verhemelte, cystisch hygroom en/of hydrops foetalis, skeletafwijkingen en foetaal overlijden in het 2de of 3de trimester) met een X-gebonden overervingspatroon."},"pt":{"name":"Síndrome de pterígio múltiplo letal ligado ao X"},"pl":{"name":"Śmiertelny zespół mnogich płetwistości sprzężony z chromosomem X"},"cs":{"name":"X-vázaný letální syndrom mnohočetných pterygií"},"uk":{"name":"Х-зчеплений летальний синдром множинної птеригії","definition":"X-linked lethal multiple pterygium syndrome is a rare, genetic, developmental defect during embryogenesis characterized by the typical lethal multiple pterygium syndrome presentation (comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or fetal hydrops, skeletal abnormalities and fetal death in the 2nd or 3rd trimester) with an X-linked pattern of inheritance."},"zh":{"name":"X连锁致命性多发性翼状胬肉综合征"},"tr":{"name":"X'e bağlı letal çoklu piterjiyum sendromu"}},"xrefs":[{"source":"OMIM","code":"312150","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q79.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.40","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"881185694"},{"source":"MONDO","code":"0010716","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706472","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4573","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294060,"name":"Multiple pterygium syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked dominant","X-linked recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"9916854[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9916854[PMID]"}],"phenotypes":null}