{"orpha":99772,"name":"Cleft velum","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Cleft soft palate","Cleft velum palatinum"],"definition":"Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99772/","orphanet_url":"https://www.orpha.net/en/disease/detail/99772","names":{"fr":{"name":"Fente vélaire","synonyms":["Fente du palais mou","Fente du palais musculo-membraneux","Fente du voile du palais"],"definition":"La fente vélaire (FV) est une embryopathie précoce de type fissuraire qui atteint de façon variable le voile du palais."},"de":{"name":"Velumspalte","synonyms":["Gaumensegelspalte","Spalte des weichen Gaumens","Weichgaumenspalte"],"definition":"Die Gaumensegelspalte ist eine Spalten-Embryopathie. In unterschiedlichem Ausmaß betroffen ist der weiche Gaumen."},"es":{"name":"Hendidura del velo del paladar","synonyms":["Hendidura del paladar blando","Hendidura del velo palatino"],"definition":"La hendidura del velo del paladar o paladar blando es una embriopatía de tipo fisura que afecta de forma variable al velo del paladar."},"it":{"name":"Schisi del velo","synonyms":["Schisi del palato molle","Schisi del velo palatino"],"definition":"La schisi del velo è un'embriopatia che consiste in una fissurazione che interessa, in modo variabile, il palato molle."},"nl":{"name":"Gespleten velum","synonyms":["Gespleten velum palatinum","Gespleten zacht verhemelte"],"definition":"Een gespleten velum is een fissuren-embryopathie die het zachte gehemelte treft in verschillende graden van ernst."},"pt":{"name":"Fenda do velum","definition":"A fenda do velum é uma embriopatia do tipo fissura que afeta em graus variados o palato mole."},"pl":{"name":"Rozszczep podniebienia miękkiego","synonyms":["Cleft soft palate","Cleft velum palatinum"]},"cs":{"name":"Rozštěp měkkého patra","synonyms":["Cleft soft palate","Cleft velum palatinum"]},"uk":{"name":"Розщілина мякого піднебіння","synonyms":["Розщілина мякого піднебіння","Розщілина velum palatinum"],"definition":"Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate."},"zh":{"name":"腭帆裂","synonyms":["腭裂"],"definition":"膜裂是一种裂隙型胚胎病，对软腭有不同程度的影响。"},"tr":{"name":"Yarık velum","synonyms":["Yarık yumuşak damak","Yarık velum palatinum"]}},"xrefs":[{"source":"OMIM","code":"119570","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q35.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA42.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"797497023"},{"source":"MONDO","code":"0007338","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562950","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432098","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2014,"name":"Cleft palate","classifications":[147,209]}],"children":[],"genes":[{"symbol":"UBB","name":"ubiquitin B","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"17468296[PMID]","hgnc":"12463","ensembl":"ENSG00000170315","omim":"191339","loci":["17p11.2"]},{"symbol":"GRHL3","name":"grainyhead like transcription factor 3","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"27018472[PMID]_27018475[PMID]","hgnc":"25839","ensembl":"ENSG00000158055","omim":"608317","loci":["1p36.11"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-28","source":"10595666[PMID]_14663236[PMID]_22523495[PMID]_27617110[PMID]","terms":[{"hpo":"HP:0000185","label":"Cleft soft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011469","label":"Nasal regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200136","label":"Oral-pharyngeal dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010863","label":"Receptive language delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000220","label":"Velopharyngeal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011951","label":"Aspiration pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011219","label":"Short face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009088","label":"Speech articulation difficulties","frequency":"Occasional (29-5%)","criteria":null}]}}