{"orpha":33108,"name":"Lethal multiple pterygium syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["LMPS","Autosomal recessive lethal multiple pterygium syndrome"],"definition":"A rare genetic multiple pterygium syndrome characterized by intrauterine growth retardation, fetal akinesia, multiple joint contractures causing severe arthrogryposis and pterygia (webbing) across multiple joints. Cystic hygroma and/or fetal hydrops are almost invariably present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-33108/","orphanet_url":"https://www.orpha.net/en/disease/detail/33108","names":{"fr":{"name":"Forme létale du syndrome des ptérygiums multiples","synonyms":["Forme létale autosomique récessive du syndrome des ptérygiums multiples","LMPS"],"definition":"Syndrome rare des ptérygium multiples d'origine génétique caractérisé par un retard de croissance intra-utérin, une akinésie foetale, des contractures articulaires multiples provoquant une arthrogrypose sévère et un ptérygerium (palmure) au niveau de plusieurs articulations. L'hygroma kystique et/ou l'anasarque foetale sont presque toujours présents."},"de":{"name":"Multiples Pterygium-Syndrom, letales","synonyms":["LMPS","Multiples Pterygium-Syndrom, autosomal-rezessives"],"definition":"Ein genetisch bedingtes multiples Pterygium-Syndrom, das durch intrauterine Wachstumsretardierung, fetale Akinese, multiple Gelenkkontrakturen, die zu schwerer Arthrogrypose führen, und Pterygien ('Flügelfell') in mehreren Gelenken gekennzeichnet ist. Ein zystisches Hygrom und/oder fetaler Hydrops sind fast immer vorhanden."},"es":{"name":"Síndrome de pterigium múltiple letal","synonyms":["LMPS","Síndrome de pterigium múltiple letal autosómico recesivo"],"definition":"Es un síndrome de pterigium múltiple, de origen genético y poco frecuente, caracterizado por un retraso del crecimiento intrauterino, acinesia fetal, contracturas articulares múltiples que resultan en artrogriposis grave y pterigium (pliegues) en múltiples articulaciones. El higroma quístico y/o la hidropesía fetal están invariablemente presentes."},"it":{"name":"Sindrome letale da pterigi multipli","synonyms":["LMPS","Sindrome letale degli pterigi multipli, autosomica recessiva"],"definition":"Si tratta di una sindrome genetica rara da pterigi multipli, caratterizzata da ritardo della crescita prenatale, acinesia del feto, contratture articolari multiple che causano una grave artrogriposi, e pterigi (pliche) su diverse articolazioni. Si associa quasi sempre a igroma cistico e/o idrope fetale."},"nl":{"name":"Letaal multipele pterygium-syndroom","synonyms":["Autosomaal recessief letaal multipele pterygium-syndroom","LMPS"],"definition":"Een zeldzaam, genetisch meervoudig pterygiumsyndroom, gekarakteriseerd door intra-uteriene groeiretardatie, foetale akinesie, multipele gewrichtscontracturen die ernstige artrogrypose veroorzaken, en pterygia ('webbing') over meerdere gewrichten. Cystisch hygroom en/of hydrops foetalis zijn nagenoeg altijd aanwezig."},"pt":{"name":"Síndrome de pterígio múltiplo letal"},"pl":{"name":"Śmiertelny zespół mnogich płetwistości","synonyms":["Autosomalny recesywny śmiertelny zespół mnogich płetwistości","LMPS"]},"cs":{"name":"Letální syndrom mnohočetných pterygií","synonyms":["LMPS","Autozomálně recesivní letální syndrom mnohočetných pterygií"]},"uk":{"name":"Летальний синдром множинних птеригіумів","synonyms":["Аутосомно-рецесивний летальний синдром множинної птеригії","LMPS"],"definition":"A rare genetic multiple pterygium syndrome characterized by intrauterine growth retardation, fetal akinesia, multiple joint contractures causing severe arthrogryposis and pterygia (webbing) across multiple joints. Cystic hygroma and/or fetal hydrops are almost invariably present."},"zh":{"name":"致死性多发性翼状胬肉综合征","synonyms":["常染色体隐性遗传致死性多发性翼状胬肉综合征"]},"tr":{"name":"Lethal çoklu piterjiyum sendromu","synonyms":["LMPS","Otozomal çekinik letal çoklu piterjiyum sendromu"]}},"xrefs":[{"source":"OMIM","code":"253290","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619334","qualifier":"BTNT","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":"1611756128"},{"source":"MONDO","code":"0009668","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1854678","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3834","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":471383,"name":"Genetic lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[156]},{"orpha":459787,"name":"Lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[147]},{"orpha":294060,"name":"Multiple pterygium syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"RAPSN","name":"receptor associated protein of the synapse","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"9863","ensembl":"ENSG00000165917","omim":"601592","loci":["11p11.2"]},{"symbol":"CHRNA1","name":"cholinergic receptor nicotinic alpha 1 subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18252226[PMID]","hgnc":"1955","ensembl":"ENSG00000138435","omim":"100690","loci":["2q31.1"]},{"symbol":"CHRND","name":"cholinergic receptor nicotinic delta subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18252226[PMID]","hgnc":"1965","ensembl":"ENSG00000135902","omim":"100720","loci":["2q37.1"]},{"symbol":"CHRNG","name":"cholinergic receptor nicotinic gamma subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16826531[PMID]","hgnc":"1967","ensembl":"ENSG00000196811","omim":"100730","loci":["2q37.1"]},{"symbol":"NEB","name":"nebulin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28336317[PMID]","hgnc":"7720","ensembl":"ENSG00000183091","omim":"161650","loci":["2q23.3"]},{"symbol":"RYR1","name":"ryanodine receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26932181[PMID]","hgnc":"10483","ensembl":"ENSG00000196218","omim":"180901","loci":["19q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","X-linked recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":28.0,"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"}],"phenotypes":null}