{"orpha":2291,"name":"Congenital velopharyngeal incompetence","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare otorhinolaryngologic malformation characterized by the isolated finding of a short and immobile soft palate with anatomical disproportion of the velopharyngeal structures, preventing velopharyngeal closure. Patients present with delayed speech development and hypernasal speech.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2291/","orphanet_url":"https://www.orpha.net/en/disease/detail/2291","names":{"fr":{"name":"Incompétence vélopharyngienne congénitale","definition":"Malformation otorhinolaryngologique rare, caractérisée par un retard de parole et une voix hypernasale en l'absence de fente palatine manifeste. L'examen radiologique montre un palais mou court et immobile et une disproportion anatomique des structures vélopharyngiennes. Il peut s'agir d'une manifestation isolée ou d'un élément du syndrome vélo-cardio-facial."},"de":{"name":"Velopharyngeale Funktionsstörungen, kongenitale","definition":"Eine seltene otorhinolaryngologische Fehlbildung, die durch den isolierten Befund eines kurzen und unbeweglichen weichen Gaumens mit anatomischer Disproportion der velopharyngealen Strukturen gekennzeichnet ist, wodurch der velopharyngeale Verschluss verhindert wird. Die Patienten weisen eine verzögerte Sprachentwicklung und eine hypernasale Sprechweise auf."},"es":{"name":"Incompetencia velofaríngea congénita","definition":"Es una malformación otorrinolaringológica poco frecuente caracterizada por el hallazgo aislado de un paladar blando corto e inmóvil con desproporción anatómica de las estructuras velofaríngeas, lo que impide el cierre velofaríngeo. Los pacientes presentan retraso del desarrollo del habla y habla hipernasal."},"it":{"name":"Insufficenza velofaringea congenita","definition":"Si tratta di una malformazione rara di interesse otorinolaringoiatrico, caratterizzata da ritardo dello sviluppo del linguaggio e voce ipernasale, in assenza di palatoschisi. Le radiografie mostrano il palato molle corto e immobile con strutture velofaringee sproporzionate dal punto di vista anatomico. La malformazione può essere isolata o rientrare nel quadro clinico della sindrome velo-cardio-facciale."},"nl":{"name":"Congenitale velofaryngeale incompetentie","definition":"Een zeldzame otorinolaryngologische malformatie, gekarakteriseerd door vertraagde spraakontwikkeling en hypernasale stem in afwezigheid van manifest gespleten verhemelte. Radiologisch onderzoek toont een kort en immobiel zacht verhemelte met anatomische disproportie van velofaryngeale structuren. De aandoening kan geïsoleerd voorkomen of als onderdeel van velocardiofaciaal syndroom."},"pt":{"name":"Disfunção velo-faringea congénita"},"pl":{"name":"Wrodzona niewydolność podniebienno-gardłowa"},"cs":{"name":"Vrozená velofaryngeální inkompetence"},"uk":{"name":"Вроджена велофарингеальна недостатність","definition":"A rare otorhinolaryngologic malformation characterized by the isolated finding of a short and immobile soft palate with anatomical disproportion of the velopharyngeal structures, preventing velopharyngeal closure. Patients present with delayed speech development and hypernasal speech."},"zh":{"name":"先天性腭咽闭合不全"},"tr":{"name":"Doğumsal velofarengeal yetersizlik"}},"xrefs":[{"source":"OMIM","code":"167500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q38.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA50","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"158386351"},{"source":"MONDO","code":"0008180","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1997202","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5470","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":435609,"name":"Genetic larynx anomaly","classifications":[156]},{"orpha":156249,"name":"Larynx anomaly","classifications":[147,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":37.0,"area":"Worldwide","status":"Validated","source":"7296935[PMID]_12887789[PMID]_11903361[PMID]_14986834[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"7296935[PMID]_12887789[PMID]_11903361[PMID]_14986834[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000600","label":"Abnormality of the pharynx","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000220","label":"Velopharyngeal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null}]}}