{"orpha":137776,"name":"Lethal congenital contracture syndrome type 2","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["LCCS2","Multiple contracture syndrome, Israeli-Bedouin type"],"definition":"Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contractures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137776/","orphanet_url":"https://www.orpha.net/en/disease/detail/137776","names":{"fr":{"name":"Syndrome des contractures congénitales létales type 2","synonyms":["LCCS2","Syndrome des contractures congénitales létales type Israeli-Bedouin"],"definition":"Un syndrome rare d'arthrogrypose caractérisé par de multiples contractures congénitales (typiquement, des contractures d'extension au niveau des coudes et des contractures de flexion au niveau des genoux), une micrognathie, une dégénérescence des cellules de la corne antérieure, une atrophie des muscles squelettiques (affectant surtout les membres inférieurs), une dilatation prononcée de la vessie, en l'absence d'anasarque, de ptérygium et de fracture osseuse. D'autres anomalies craniofaciales (comme une fente palatine, une paralysie faciale) et oculaires (comme une anisocorie, un décollement de la rétine) peuvent être observées. Le syndrome est généralement létal pendant la période néonatale, mais des survivants ont été rapportés jusqu'à l'adolescence."},"de":{"name":"Syndrom der kongenitalen letalen Kontrakturen Typ 2","synonyms":["LCCS2","Syndrom der multiplen Kontrakturen Typ Israeli-Bedouin"],"definition":"Ein seltenes Arthrogrypose-Syndrom, das gekennzeichnet ist durch multiple kongenitale Kontakturen (typischerweise gestreckte Ellbogen und gebeugte Knie), Mikrognathie, Vorderhornzelldegeneration, Skelettmuskelatrophie (hauptsächlich in den unteren Gliedmaßen) und Vorhandensein einer deutlich erweiterten Harnblase. Hydrops, Pterygium und Knochenfrakturen liegen nicht vor. Es können auch kraniofaziale (z.B. Gaumenspalte, Gesichtslähmung) und okuläre (z.B. Anisokorie, Netzhautablösung) Anomalien vorhanden sein. Die Erkrankung zeigt in der Regel im Neugeborenenalter einen letalen Verlauf, es wurde jedoch auch über ein Überleben bis ins Jugendalter berichtet."},"es":{"name":"Síndrome de contractura letal congénita tipo 2","synonyms":["LCCS2","Síndrome de contractura múltiple tipo Israeli-Bedouin"],"definition":"El síndrome de contractura letal congénita tipo 2 es un síndrome de artrogriposis poco frecuente, caracterizado por contracturas congénitas múltiples (típicamente, codos extendidos y rodillas flexionadas), micrognatia, degeneración de las células del asta anterior, atrofia musculoesquelética (principalmente de miembros inferiores), presencia de una vejiga urinaria notablemente distendida y ausencia de hidropesía, pterigión y fracturas óseas. Además, se pueden observar otras anomalías craneofaciales (p. ej., paladar hendido, parálisis facial) y oculares (p. ej., anisocoria, desprendimiento de retina). La enfermedad suele resultar en fallecimiento en el periodo neonatal, aunque se ha notificado supervivencia en la adolescencia."},"it":{"name":"Sindrome da contratture congenite letali, tipo 2","synonyms":["LCCS2","Sindrome da contratture multiple, tipo israeliano-beduino"],"definition":"La sindrome da contratture congenite letali tipo 2 è una malattia rara da artrogriposi, caratterizzata da contratture congenite multiple (di solito con estensione dei gomiti e flessione delle ginocchia), micrognazia, degenerazione delle cellule delle corna anteriori, atrofia dei muscoli scheletrici (soprattutto degli arti inferiori), vescica notevolmente distesa, in assenza di idrope, pterigi e fratture ossee. Possono associarsi anomalie craniofacciali (palatoschisi, paralisi facciale) e oculari (anisocoria, distacco della retina). Di solito la malattia è letale nel periodo neonatale, ma sono stati descritti pazienti sopravvissuti fino all'adolescenza."},"nl":{"name":"Letale congenitale contracturen-syndroom type 2","synonyms":["LCCS2","Meervoudige contracturen-syndroom, Israeli-Bedouin-type","Meervoudige contracturen-syndroom, Israëlische-Bedoeïenen-type"],"definition":"Letaal congenitaal contractuursyndroom type 2 is een zeldzaam artrogryposesyndroom dat gekarakteriseerd wordt door multipele congenitale contacturen (doorgaans gestrekte ellebogen en gebogen knieën), micrognathie, voorhoornceldegeneratie, atrofie van skeletspieren (voornamelijk in de onderste ledematen), aanwezigheid van een duidelijk opgezwollen urineblaas, en afwezigheid van hydrops, pterygium en botfracturen. Bijkomend kunnen andere craniofaciale (e.g. gespleten verhemelte, gezichtsverlamming) en oculaire (e.g. anisocorie, netvliesloslating) anomalieën waargenomen worden. De ziekte is meestal letaal voor neonaten, maar overleving tot in de adolescentie werd ook reeds gerapporteerd."},"pt":{"name":"Síndrome de contratura congénita letal tipo 2"},"pl":{"name":"Letalny zespół wrodzonych przykurczy stawowych typu 2","synonyms":["LCCS2","Zespół mnogich przykurczy stawowych, typ izraelsko-beduiński"]},"cs":{"name":"Letální syndrom vrozených kontraktur, typ 2","synonyms":["LCCS2","Syndrom mnohočetných kontraktur, izraelsko-beduínský typ"]},"uk":{"name":"Летальний синдром вродженої контрактури, тип 2","synonyms":["LCCS2","Синдром множинних контрактур, ізраїльсько-бедуїнський тип"],"definition":"Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported."},"zh":{"name":"致死性先天性挛缩综合征2型","synonyms":["多发性挛缩综合征Israeli-Bedouin型"],"definition":"致死性先天性挛缩综合征2型是一种罕见的关节弯曲综合征，其特征是多种先天性挛缩（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），膀胱明显扩张且无积液、翼状胬肉和骨折。也可观察到其他颅面部（如裂腭、面神经麻痹）和眼（如瞳孔不等、视网膜脱离）异常。该病通常新生儿致死，但有报道称可存活至青春期。"},"tr":{"name":"Letal Doğumsal kontraktür sendromu tip 2","synonyms":["LCCS2","Çoklu kontraktür sendromu, İsrail-Bedevi tipi"]}},"xrefs":[{"source":"OMIM","code":"607598","qualifier":"E","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":"1207805168"},{"source":"MONDO","code":"0011868","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564369","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843478","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9177","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":"ERBB3","name":"erb-b2 receptor tyrosine kinase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17701904[PMID]","hgnc":"3431","ensembl":"ENSG00000065361","omim":"190151","loci":["12q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"12548738[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12548738[PMID]"}],"phenotypes":null}