{"orpha":2064,"name":"Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Faulk-Epstein-Jones syndrome"],"definition":"A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2064/","orphanet_url":"https://www.orpha.net/en/disease/detail/2064","names":{"fr":{"name":"Syndrome de fusions des vertèbres lombo-sacrées-blépharoptosis","synonyms":["Syndrome de Faulk-Epstein-Jones"],"definition":"Le syndrome de fusions des vertèbres lombo-sacrées-blépharoptosis est caractérisé par un ptosis congénital et une fusion postérieure des vertèbres lombo-sacrées. Il a été décrit chez une mère et ses deux filles."},"de":{"name":"Posteriore Fusion der lumbosakralen Wirbelkörper-Blepharoptose-Syndrom","synonyms":["Faulk-Epstein-Jones-Syndrom"]},"es":{"name":"Síndrome de fusión posterior de las vértebras lumbosacras-blefaroptosis","definition":"Es un síndrome poco frecuente caracterizado por ptosis congénita y fusión posterior de las vértebras lumbosacras. Se ha descrito en una madre y sus dos hijas."},"it":{"name":"Fusione posteriore delle vertebre lombosacrali - blefaroptosi","synonyms":["Sindrome di Faulk-Epstein-Jones"]},"nl":{"name":"Posterieure fusie van lumbosacrale wervels - blefaroptose-syndroom","synonyms":["Syndroom van Faulk-Epstein-Jones"],"definition":"Een zeldzaam syndroom gekarakteriseerd door congenitale ptose en posterieure fusie van de lumbosacrale wervels. Het werd beschreven bij een moeder en twee van haar dochters."},"pt":{"name":"Síndrome de fusão vertebral lombosagrada posterior-blefaroptose","synonyms":["Síndrome Faulk-Epstein-Jones"]},"pl":{"name":"Zrost kręgu lędźwiowego i krzyżowego - opadanie powiek","synonyms":["Zespół Faulka, Epsteina i Jonesa"]},"cs":{"name":"Syndrom zahrnující zadní fúzi lumbosakrálních obratlů a blefaroptózu","synonyms":["Faulkův-Epsteinův-Jonesův syndrom","Faulk-Epstein-Jonesův syndrom"]},"uk":{"name":"Синдром заднього зрощення попереково-крижових хребців - блефароптозу","synonyms":["Синдром Фолка-Епштейна-Джонса"],"definition":"A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters."},"zh":{"name":"腰骶椎后路融合-睑下垂综合征","synonyms":["Faulk-Epstein-Jones 综合征"]},"tr":{"name":"Lumbosakral vertebranın posterior füzyonu-blefaroptoz sendromu","synonyms":["Faulk-Epstein-Jones sendromu"]}},"xrefs":[{"source":"OMIM","code":"192800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008650","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536344","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510303","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":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"5443339[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5443339[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005626","label":"Posterior fusion of lumbosacral vertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Frequent (79-30%)","criteria":null}]}}