{"orpha":141291,"name":"Cleft lip and alveolus","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-141291/","orphanet_url":"https://www.orpha.net/en/disease/detail/141291","names":{"fr":{"name":"Fente labio-alvéolaire","synonyms":["Fente labio-maxillaire"],"definition":"Embryopathie de type fissuraire qui atteint de façon variable la lèvre supérieure, le seuil narinaire et l'arcade alvéolaire."},"de":{"name":"Lippenspalte mit Spalte des alveolären Anteils","definition":"Die Lippenspalte mit Spalte des alveolären Anteils ist eine Spalten-Embryopathie mit unterschiedlich schwer ausgeprägter Beteiligung von Oberlippe, Nasenbasis und Alveolarleiste."},"es":{"name":"Fisura labioalveolar","definition":"La fisura labioalveolar es una embriopatía de tipo fisura que afecta de forma variable a labio superior, base de la nariz y reborde alveolar."},"it":{"name":"Schisi labio-alveolare","definition":"La schisi labio-alveolare è un'embriopatia che consiste in una fessurazione che interessa in modo variabile il labbro superiore, la base del naso e la cresta alveolare."},"nl":{"name":"Schisis van lip en alveole","synonyms":["Gespleten lip en tandkas"],"definition":"Een gespleten lip en kaak is een fissuren-embryopathie die de bovenlip, neusbasis en alveolaire kam treft in uiteenlopende graden van ernst."},"pt":{"name":"Fenda lábio-alveolar","definition":"A fenda do lábio e alvéolo é uma embriopatia tipo fissura que envolve o lábio superior, base nasal e rebordo alveolar em graus variáveis."},"pl":{"name":"Rozszczep wargi i wyrostka zębodołowego"},"cs":{"name":"Rozštěp rtu a zubního lůžka"},"uk":{"name":"Розщілина губи та альвеолярного відростка","definition":"Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees."},"zh":{"name":"唇裂和齿槽裂","definition":"唇裂和牙槽裂是一种不同程度累及上唇、鼻底和牙槽嵴的裂型胚胎病。"},"tr":{"name":"Yarık dudak ve alveolus"}},"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":"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":"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":"ICD-10","code":"Q36.0","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q36.1","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q36.9","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA41","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1653169553"},{"source":"MONDO","code":"0015420","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1298692","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":"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":null,"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":"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":"6-9 / 10 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-25","source":"23139511[PMID]_20796225[PMID]_30970062[PMID]","terms":[{"hpo":"HP:0100267","label":"Lip pit","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005105","label":"Abnormal nasal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002793","label":"Abnormal pattern of respiration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410011","label":"Abnormality of masticatory muscle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005324","label":"Disturbance of facial expression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005216","label":"Impaired mastication","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009088","label":"Speech articulation difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000419","label":"Abnormality of the nasal septum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Occasional (29-5%)","criteria":null}]}}