{"orpha":137783,"name":"Lethal congenital contracture syndrome type 3","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["LCCS3"],"definition":"Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137783/","orphanet_url":"https://www.orpha.net/en/disease/detail/137783","names":{"fr":{"name":"Syndrome des contractures congénitales létales type 3","synonyms":["LCCS3"],"definition":"Un syndrome rare d'arthrogrypose caractérisé par des signes cliniques identiques à ceux du syndrome des contractures congénitales létales type 2 (des contractures congénitales multiples se manifestant surtout par des coudes étirés et des genoux fléchis, une micrognathie, une dégénérescence des cellules de la corne antérieure de la moelle épinière, une atrophie des muscles squelettiques affectant surtout les membres inférieurs, en l'absence d'anasarque foetoplacentaire, de ptérygium ou de fracture osseuse), mais sans élargissement de la vessie."},"de":{"name":"Syndrom der kongenitalen letalen Kontrakturen Typ 3","synonyms":["LCCS3"],"definition":"Ein seltenes Arthrogrypose-Syndrom, das durch klinische Merkmale gekennzeichnet ist, die mit den Symptomen des Syndroms der kongenitalen letalen Kontrakturen Typ 2 (LCCS2) identisch sind: multiple kongenitale Kontakturen (typischerweise gestreckte Ellbogen und gebeugte Knie), Mikrognathie, Vorderhornzellendegeneration und Skelettmuskelatrophie (hauptsächlich in den unteren Gliedmaßen). Wie in LCCS2 fehlen Hydrops, Pterygium oder Knochenbrüche, allerdings liegt in LCCS3 keine Blasenvergrößerung vor."},"es":{"name":"Síndrome de contractura letal congénita tipo 3","synonyms":["LCCS3"],"definition":"El síndrome de contractura letal congénita tipo 3 es un síndrome de artrogriposis poco frecuente caracterizado por signos clínicos idénticos a los del síndrome de contractura letal congénita tipo 2, es decir, contracturas congénitas múltiples (típicamente codos extendidos y rodillas flexionadas), micrognatia, degeneración de las células del asta anterior, atrofia de los músculos esqueléticos (principalmente de las extremidades inferiores), en ausencia de hidrops, pterigio o fracturas óseas, pero sin agrandamiento de la vejiga."},"it":{"name":"Sindrome da contratture congenite letali, tipo 3","synonyms":["LCCS3"],"definition":"La sindrome da contratture congenite letali tipo 3 è una malattia rara da artrogriposi, caratterizzata dagli stessi clinici della sindrome da contratture congenite letali tipo 2, ovvero contratture congenite multiple, (di solito con estensione dei gomiti e flessione delle ginocchia), micrognazia, degenerazione delle cellule delle corna anteriori e atrofia dei muscoli scheletrici (soprattutto degli arti inferiori) in assenza di idrope, pterigio o fratture ossee, ma senza distensione della vescica."},"nl":{"name":"Letale congenitale contracturen-syndroom type 3","synonyms":["LCCS3"],"definition":"Letaal congenitaal contractuursyndroom type 3 is een zeldzaam artrogryposesyndroom dat gekarakteriseerd wordt door klinische kenmerken die identiek zijn aan die van letaal congenitaal contractuursyndroom type 2 (i.e. multipele congenitale contacturen (typisch gestrekte ellebogen en gebogen knieën), micrognathie, voorhoornceldegeneratie, atrofie van skeletspieren (voornamelijk in de onderste ledematen), in afwezigheid van hydrops, pterygium of botfracturen), maar zonder blaasvergroting."},"pt":{"name":"Síndrome de contratura congénita letal tipo 3"},"pl":{"name":"Letalny zespół wrodzonych przykurczy stawowych typu 3","synonyms":["LCCS3"]},"cs":{"name":"Syndrom vrozených letálních kontraktur, typ 3","synonyms":["LCCS3"]},"uk":{"name":"Летальний синдром вродженої контрактури, тип 3","synonyms":["LCCS3"],"definition":"Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement."},"zh":{"name":"致死性先天性挛缩综合征3型","synonyms":["LCCS3"],"definition":"致死性先天性挛缩综合征3型是一种罕见的关节弯曲综合征，其临床特征与致死性先天性挛缩综合征2型相同（即多种先天性挛缩（典型症状是肘部伸直和膝盖弯曲），小颌畸形，前角细胞变性，骨骼肌萎缩（主要为下肢），无积液、翼状胬肉或骨折），且无膀胱肿大。"},"tr":{"name":"Letal Doğumsal kontraktür sendromu tip 3","synonyms":["LCCS3"]}},"xrefs":[{"source":"OMIM","code":"611369","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"614915","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.4Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1272735380"},{"source":"MONDO","code":"0012656","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566961","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1969655","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":294965,"name":"Lethal congenital contracture syndrome","classifications":[147,156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]}],"children":[],"genes":[{"symbol":"MYBPC1","name":"myosin binding protein C1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22610851[PMID]","hgnc":"7549","ensembl":"ENSG00000196091","omim":"160794","loci":["12q23.2"]},{"symbol":"PIP5K1C","name":"phosphatidylinositol-4-phosphate 5-kinase type 1 gamma","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17701898[PMID]","hgnc":"8996","ensembl":"ENSG00000186111","omim":"606102","loci":["19p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"17701898[PMID]_22610851[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17701898[PMID]_22610851[PMID]"}],"phenotypes":null}