{"orpha":2016,"name":"Cleft palate-lateral synechia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CPLS syndrome"],"definition":"Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2016/","orphanet_url":"https://www.orpha.net/en/disease/detail/2016","names":{"fr":{"name":"Syndrome de fente palatine-synéchies latérales","synonyms":["Syndrome CPLS"],"definition":"La fente palatine - synéchies latérales (FPSL) est un syndrome de malformation congénitale caractérisé par l'association d'une fente palatine et de synéchies intra-orales latérales connectant les bords libres du palais au plancher de la bouche. La FPSL suit un mode de transmission autosomique dominant."},"de":{"name":"Gaumenspalte-Laterale Synechie-Syndrom","synonyms":["CPLS-Syndrom"]},"es":{"name":"Síndrome de paladar hendido-sinequias laterales","synonyms":["Síndrome CPLS"],"definition":"El síndrome de fisura palatina-sinequias laterales (CPLS; por sus siglas en inglés) es un síndrome de malformación congénita caracterizado por la asociación de paladar hendido y sinequias laterales intraorales que conectan los bordes libres del paladar y el piso de la boca. Se presume que el CPLS se hereda de forma autosómica dominante."},"it":{"name":"Sindrome palatoschisi-sinechie laterali","synonyms":["Sindrome CPLS"]},"nl":{"name":"Gespleten verhemelte - laterale synechie-syndroom","synonyms":["CPLS-syndroom"],"definition":"Gespleten gehemelte-laterale synechiae syndroom (CPLS) is een aangeboren malformatiesyndroom gekenmerkt door de associatie van een gespleten gehemelte en intra-orale laterale synechiae die de vrije zijden van het gehemelte en de mondvloer met mekaar in verbinding stellen. Men vermoedt dat CPLS op een autosomaal dominante wijze wordt overgeërfd."},"pt":{"name":"Síndrome de fenda palatina-sinéquia lateral"},"pl":{"name":"Zespół rozszczepu podniebienia i zrostów bocznych","synonyms":["Zespół CplS"]},"cs":{"name":"Syndrom zahrnující rozštěp patra a laterální synechie","synonyms":["CPSL syndrom"]},"uk":{"name":"Синдром розщілини піднебіння-латеральної синехії","synonyms":["Синдром CPLS"],"definition":"Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner."},"zh":{"name":"腭裂-外侧虹膜粘连综合征","synonyms":["CPLS 综合征"]},"tr":{"name":"Damak yarığı-lateral sineşi sendromu","synonyms":["CPLS sendromu"]}},"xrefs":[{"source":"OMIM","code":"119550","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007337","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563047","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795898","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1391","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]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"19368978[PMID]_24163560[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010285","label":"Oral synechia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null}]}}