{"orpha":199306,"name":"Cleft lip/palate","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Alveolar cleft lip and palate","Cleft lip and palate","Cleft lip-alveolus-palate syndrome","FLP"],"definition":"Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-199306/","orphanet_url":"https://www.orpha.net/en/disease/detail/199306","names":{"fr":{"name":"Fente labio-palatine","synonyms":["FLP","Fente labio-alvéolo-maxillo-palatine","Fente labio-alvéolo-maxillo-vélo-palatine","Fente labio-alvéolo-palatine","Fente labio-maxillo-palatine","Fente labio-maxillo-vélo-palatine"],"definition":"Embryopathie de type fissuraire qui atteint la lèvre supérieure, le seuil narinaire, l'arcade alvéolaire, et le palais dur et mou."},"de":{"name":"Lippen-Kiefer-Gaumenspalte","synonyms":["FLP","Lippen-, Oberkiefer- und Gaumenspalte","Lippen-Kiefer-Spalte","Lippengaumenspalte, alveoläre"],"definition":"Die Lippen-Kiefer-Gaumen-Spalte ist eine Spalten-Embryopathie. Sie erstreckt sich von der Oberlippe über die Nasenbasis und Alveolarleiste bis zum harten und weichen Gaumen."},"es":{"name":"Fisura labiopalatina","synonyms":["FLP","Fisura labio-alveolo-palatina"],"definition":"El labio leporino / paladar hendido es una embriopatía de tipo fisura que afecta al labio superior, a la base de la nariz, al reborde alveolar, al paladar óseo y blando."},"it":{"name":"Labio/palatoschisi","synonyms":["FLP","Labiopalatoschisi alveolare","Schisi labio/alveolo/palatina","Schisi labiopalatina"],"definition":"La palatoschisi è un'embriopatia che consiste in una fissurazione che interessa, in modo variabile, il palato duro e molle."},"nl":{"name":"Gespleten lip/verhemelte","synonyms":["Alveolaire gespleten lip en verhemelte","FLP","Gespleten lip - alveolus - verhemelte","Gespleten lip en verhemelte"],"definition":"Een gespleten lip en gehemelte is een fissuren-embryopathie die de bovenlip, neusbasis en alveolaire kam en het harde en zachte gehemelte treft."},"pt":{"name":"Fenda labial/palatina","definition":"A fenda labiopalatina é uma embriopatia do tipo fissura estendendo-se através do lábio superior, base nasal, rebordo alveolar e palato duro e mole."},"pl":{"name":"Rozszczep wargi/podniebienia","synonyms":["FLP","Rozszczep wargi i podniebienia","Rozszczep wargi-wyrostka zębodołowego-podniebienia","Rozszczep wyrostka zębodołowego, wargi i podniebienia"]},"cs":{"name":"Rozštěp rtu/patra","synonyms":["FLP","Cleft lip and palate","Alveolar cleft lip and palate","Cleft lip-alveolus-palate syndrome","Rozštěp rtu a patra","Alveolární rozštěp rtu a patra","Syndrom rozštěpu rtu, alveolu a patra"]},"uk":{"name":"Розщілина губи/піднебіння","synonyms":["Альвеолярна щілина губи та піднебіння","Розщілина губи та піднебіння","Синдром розщеплення губи-альвеоли-піднебіння","ФОП"],"definition":"Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate."},"zh":{"name":"唇腭裂","synonyms":["唇裂-牙槽突裂-腭裂综合征"],"definition":"唇腭裂是一种发生于上唇、鼻基底、牙槽嵴及软硬腭的裂隙型胚胎病。"},"tr":{"name":"Yarık dudak/damak","synonyms":["FLP","Yarık dudak ve damak","Alveolar yarık dudak ve damak","Yarık dudak-alveol-damak sendromu"]}},"xrefs":[{"source":"OMIM","code":"119530","qualifier":"ND","icd_relation":null,"validated":true},{"source":"OMIM","code":"129400","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"225060","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600625","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600757","qualifier":"ND","icd_relation":null,"validated":true},{"source":"OMIM","code":"602966","qualifier":"ND","icd_relation":null,"validated":true},{"source":"OMIM","code":"608371","qualifier":"ND","icd_relation":null,"validated":true},{"source":"OMIM","code":"608864","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608874","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610361","qualifier":"ND","icd_relation":null,"validated":true},{"source":"OMIM","code":"612858","qualifier":"ND","icd_relation":null,"validated":true},{"source":"OMIM","code":"613705","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616788","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618149","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618761","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q37.0","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q37.1","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q37.2","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q37.3","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q37.4","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q37.5","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q37.8","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q37.9","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA40","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"172183323"},{"source":"ICD-11","code":"LA42","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"2129534948"},{"source":"MONDO","code":"0016044","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0158646","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10009260","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1991,"name":"Cleft lip with or without cleft palate","classifications":[147,209]}],"children":[],"genes":[{"symbol":"DLX4","name":"distal-less homeobox 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25954033[PMID]","hgnc":"2917","ensembl":"ENSG00000108813","omim":"601911","loci":["17q21.33"]},{"symbol":"ARHGAP29","name":"Rho GTPase activating protein 29","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"27350171[PMID]","hgnc":"30207","ensembl":"ENSG00000137962","omim":"610496","loci":["1p22.1"]},{"symbol":"ARHGEF38","name":"Rho guanine nucleotide exchange factor 38","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"36493769[PMID]","hgnc":"25968","ensembl":"ENSG00000236699","omim":"619919","loci":["4q24"]},{"symbol":"BMP4","name":"bone morphogenetic protein 4","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"22978696[PMID]","hgnc":"1071","ensembl":"ENSG00000125378","omim":"112262","loci":["14q22.2"]},{"symbol":"CDH1","name":"cadherin 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23197654[PMID]","hgnc":"1748","ensembl":"ENSG00000039068","omim":"192090","loci":["16q22.1"]},{"symbol":"COBLL1","name":"cordon-bleu WH2 repeat protein like 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"36493769[PMID]","hgnc":"23571","ensembl":"ENSG00000082438","omim":"610318","loci":["2q24.3"]},{"symbol":"DLG1","name":"discs large MAGUK scaffold protein 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"28926086[PMID]","hgnc":"2900","ensembl":"ENSG00000075711","omim":"601014","loci":["3q29"]},{"symbol":"IRF6","name":"interferon regulatory factor 6","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"17438386[PMID]","hgnc":"6121","ensembl":"ENSG00000117595","omim":"607199","loci":["1q32.2"]},{"symbol":"MSX1","name":"msh homeobox 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"12807959[PMID]","hgnc":"7391","ensembl":"ENSG00000163132","omim":"142983","loci":["4p16.2"]},{"symbol":"NECTIN1","name":"nectin cell adhesion molecule 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"16674562[PMID]","hgnc":"9706","ensembl":"ENSG00000110400","omim":"600644","loci":["11q23.3"]},{"symbol":"PDGFRA","name":"platelet derived growth factor receptor alpha","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"35147171[PMID]","hgnc":"8803","ensembl":"ENSG00000134853","omim":"173490","loci":["4q12"]},{"symbol":"RIC1","name":"RIC1 partner of RAB6A GEF complex","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"36493769[PMID]","hgnc":"17686","ensembl":"ENSG00000107036","omim":"610354","loci":["9p24.1"]},{"symbol":"TP63","name":"tumor protein p63","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"16740912[PMID]_21567929[PMID]","hgnc":"15979","ensembl":"ENSG00000073282","omim":"603273","loci":["3q28"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Validated","source":"Pr Marie-Paule VAZQUEZ[EXPERT]_Dr Eva GALLIANI[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":56.0,"area":"United States","status":"Validated","source":"25399767[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":98.0,"area":"France","status":"Validated","source":"1842671[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":80.0,"area":"Worldwide","status":"Validated","source":"22374000[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-02","source":"30136310[PMID]_30396411[PMID]_31058728[PMID]_31071123[PMID]_31075568[PMID]","terms":[{"hpo":"HP:0006292","label":"Abnormality of dental eruption","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200136","label":"Oral-pharyngeal dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009088","label":"Speech articulation difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100334","label":"Unilateral cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000220","label":"Velopharyngeal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011044","label":"Abnormal number of permanent teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200153","label":"Agenesis of lateral incisor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100337","label":"Bilateral cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004395","label":"Malnutrition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010294","label":"Palate fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006342","label":"Peg-shaped maxillary lateral incisors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Very rare (<4-1%)","criteria":null}]}}