{"orpha":2371,"name":"Lethal Larsen-like syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2371/","orphanet_url":"https://www.orpha.net/en/disease/detail/2371","names":{"fr":{"name":"Syndrome létal de Larsen-like","definition":"Anomalie rare du développement avec anomalies du tissu conjonctif, caractérisée par de multiples luxations articulaires, un visage aplati, des plis palmaires anormaux, une laryngotrachéomalacie et une hypoplasie pulmonaire. Les autres signes peuvent comprendre une langue bifide, une micrognathie, une anasarque foetoplacentaire non immunologique et une dysplasie du cerveau. La maladie est létale peu après la naissance en raison de l'insuffisance respiratoire."},"de":{"name":"Larsen-ähnliches Syndrom, letale Form","definition":"Eine seltene Entwicklungsstörung mit Bindegewebsbeteiligung, die durch multiple Gelenkdislokationen, ein abgeflachtes Gesichtsaussehen, abnorme Handflächenfalten, Laryngotracheomalazie und Lungenhypoplasie gekennzeichnet ist. Weitere Anzeichen können eine bifide Zunge, Mikrognathie, ein nicht-immuner Hydrops fetalis und eine Hirndysplasie sein. Die Krankheit verläuft kurz nach der Geburt aufgrund von Ateminsuffizienz tödlich."},"es":{"name":"Síndrome similar a Larsen letal","synonyms":["Síndrome de Larsen-like letal"],"definition":"Es un defecto poco frecuente del desarrollo con compromiso del tejido conectivo caracterizado por múltiples luxaciones articulares, aplanamiento facial, pliegues palmares anómalos, laringotraqueomalacia e hipoplasia pulmonar. Otros signos adicionales pueden incluir lengua bífida, micrognatia, hidrops fetal no inmunológica y displasia cerebral. La enfermedad es letal poco después del nacimiento debido a una insuficiencia respiratoria."},"it":{"name":"Sindrome Larsen-simile forma letale","definition":"Si tratta di un difetto raro dello sviluppo con interessamento del tessuto connettivo, caratterizzato da dislocazioni articolari multiple, viso piatto, anomalie delle pliche palmari, laringotracheomalacia e ipoplasia polmonare. I pazienti possono presentare anche lingua bifida, micrognazia, idrope fetale non immune e displasia cerebrale. La malattia è letale subito dopo la nascita a causa dell'insufficienza respiratoria."},"nl":{"name":"Letaal Larsen-achtig syndroom","definition":"Een zeldzaam ontwikkelingsdefect met betrokkenheid van bindweefsel, gekarakteriseerd door multipele luxaties van gewricht, plat aangezicht, abnormale handlijnen, laryngotracheomalacie, en pulmonale hypoplasie. Mogelijke bijkomende verschijnselen zijn onder meer bifide tong, micrognathie, niet-immune hydrops foetalis, en dysplasie van hersenen. De ziekte is kort na de geboorte letaal als gevolg van respiratoire insufficiëntie."},"pt":{"name":"Síndrome Larsen-like letal"},"pl":{"name":"Śmiertelny zespół podobny do zespoły Larsena"},"cs":{"name":"Letální syndrom podobný Larsenovu"},"uk":{"name":"Летальний Ларсен-подібний синдром","definition":"A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency."},"zh":{"name":"致死性Larsen样综合征"},"tr":{"name":"Letal Larsen-benzeri sendrom"}},"xrefs":[{"source":"OMIM","code":"245650","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.E","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1014532279"},{"source":"MONDO","code":"0009512","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537872","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304741","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3181","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93441,"name":"Primary bone dysplasia with multiple joint dislocations","classifications":[147,156,199]},{"orpha":139030,"name":"Rare developmental defect with connective tissue involvement","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"19014058[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19014058[PMID]"}],"phenotypes":null}