{"orpha":503,"name":"Larsen syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"An orofacial clefting syndrome characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-503/","orphanet_url":"https://www.orpha.net/en/disease/detail/503","names":{"fr":{"name":"Syndrome de Larsen","definition":"Syndrome avec fente oro-faciale caractérisé par une luxation congénitale des grandes articulations, des déformations du pied, une dysplasie de la colonne cervicale, une scoliose, des phalanges distales en forme de spatule et des anomalies craniofaciales caractéristiques, y compris une fente palatine."},"de":{"name":"Larsen-Syndrom","definition":"Eine syndromale Form der orofazialen Spaltbildung, die durch angeborene Luxation großer Gelenke, Fußdeformitäten, Dysplasie der Halswirbelsäule, Skoliose, spatelförmige distale Phalangen und ausgeprägte kraniofaziale Anomalien, einschließlich Gaumenspalten, gekennzeichnet ist."},"es":{"name":"Síndrome de Larsen","definition":"Es un síndrome de fisura orofacial caracterizado por la luxación congénita de grandes articulaciones, deformidades de los pies, displasia de la columna cervical, escoliosis, falanges distales en forma de espátula y anomalías craneofaciales distintivas, incluida la fisura palatina."},"it":{"name":"Sindrome di Larsen","definition":"La sindrome di Larsen (LS) è una malattia da schisi orofacciali caratterizzata da dislocazione congenita delle grandi articolazioni, deformità dei piedi, displasia del tratto cervicale della colonna, scoliosi, falangi distali a spatola e dismorfismi craniofacciali caratteristici, che comprendono la palatoschisi."},"nl":{"name":"Syndroom van Larsen","definition":"Een orofaciale schisis-syndroom, gekarakteriseerd door congenitale luxatie van grote gewrichten, voetmisvormingen, dysplasie van cervicale wervelkolom, scoliose, spatelvormige distale falangen en kenmerkende craniofaciale anomalieën, waaronder gespleten verhemelte."},"pt":{"name":"Síndrome Larsen"},"pl":{"name":"Zespół Larsena","definition":"Zespół Larsena (LS) jest rzadko występującą dysplazją kostną charakteryzującą się wrodzonymi zwichnięciami dużych stawów, zniekształceniami stóp, dysplazją kręgosłupa szyjnego, skoliozą, poszerzonymi (łopatkowymi) paliczkami dystalnymi (końcowymi) i specyficznymi nieprawidłowościami twarzowo-czaszkowymi, łacznie z rozszczepem podniebienia."},"cs":{"name":"Autozomálně dominantní Larsenův syndrom"},"uk":{"name":"Синдром Ларсена","definition":"An orofacial clefting syndrome characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate."},"zh":{"name":"Larsen综合征"},"tr":{"name":"Larsen sendromu"}},"xrefs":[{"source":"OMIM","code":"150250","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD24.E","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"607849551"},{"source":"MONDO","code":"0007875","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C580241","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0175778","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6860","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10073856","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93425,"name":"Filamin-related bone disorder","classifications":[156]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]},{"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":[{"symbol":"FLNB","name":"filamin B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3755","ensembl":"ENSG00000136068","omim":"603381","loci":["3p14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.65,"area":"France","status":"Validated","source":"22925539[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"France","status":"Validated","source":"22925539[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"Europe","status":"Validated","source":"[EXPERT]_EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]_EUROCAT European surveillance of congenital anomalies 2010[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009836","label":"Broad distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005008","label":"Large joint dislocations","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001799","label":"Short nail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004232","label":"Accessory carpal bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003319","label":"Abnormality of the cervical spine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008755","label":"Laryngotracheomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Occasional (29-5%)","criteria":null}]}}