{"orpha":888,"name":"Van der Woude syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cleft lip/palate with mucous cysts of lower lip","Lip-pit syndrome","VWS"],"definition":"Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-888/","orphanet_url":"https://www.orpha.net/en/disease/detail/888","names":{"fr":{"name":"Syndrome de Van der Woude","synonyms":["Syndrome de fente labiopalatine-fistules de la lèvre inférieure"],"definition":"Syndrome dysmorphique congénital rare, d'origine génétique, caractérisé par des fistules paramédianes de la lèvre inférieure, une fente labiale avec ou sans fente palatine, ou une fente palatine isolée."},"de":{"name":"Van-der-Woude-Syndrom","synonyms":["Lip-Pit-Syndrom","Lippenspalte und/oder Gaumenspalte mit Schleimzysten der Unterlippe","Unterlippenfisteln in fakultativer Kombination mit Spalten","VDWS"],"definition":"Das Van der Woude-Syndrom (VDWS), ein seltenes, genetisch bedingtes Dysmorphie-Syndrom, ist gekennzeichnet durch Unterlippenfisteln, Lippenspalte mit oder ohne Gaumenspalte oder isolierte Gaumenspalte."},"es":{"name":"Síndrome de Van Der Woude","synonyms":["Labio leporino y/o paladar hendido con quistes mucosos del labio inferior","Síndrome de fosita labial","VWS"],"definition":"El síndrome de Van der Woude (VWS) es una enfermedad de origen genético, que se caracteriza fundamentalmente por la presencia de diversas anomalias orofaciales, como fístulas paramedianas del labio inferior, labio leporino con o sin paladar hendido, o paladar hendido aislado."},"it":{"name":"Sindrome di Van der Woude","synonyms":["Labio- e/o palatoschisi con cisti delle mucose del labbro inferiore","Sindrome della fossetta sul labbro","VWS"],"definition":"La sindrome di Van der Woude (VWS) è una condizione genetica dismorfica congenita rara, caratterizzata da fistole paramediane sul labbro inferiore, labioschisi con o senza palatoschisi, o palatoschisi isolata."},"nl":{"name":"Syndroom van Van der Woude","synonyms":["Gespleten lip en/of gehemelte met muceuze cysten van onderlip","Lip-pit-syndroom","VWS"],"definition":"Van der Woudesyndroom (VWS) is een zeldzaam aangeboren genetisch dysmorf syndroom, gekenmerkt door een paramediane fistel van de onderste lip, gespleten lip met of zonder gespleten gehemelte, of geïsoleerd gespleten gehemelte."},"pt":{"name":"Síndrome Van Der Woude","synonyms":["Fenda labial e/ou palatina com quistos mucosos no lábio inferior","Síndrome de fossetas labiais"]},"pl":{"name":"Zespół Van der Woude","synonyms":["Rozszczep wargi i(lub) podniebienia z torbielami błony śluzowej wargi dolnej","VWS","Zespół dołków na wardze"]},"cs":{"name":"Van der Woudeho syndrom","synonyms":["Syndrom s jamkami na rtu","VWS","Rozštěp rtu nebo patra s mukózními cystami dolního rtu"]},"uk":{"name":"Синдром Ван дер Вуда","synonyms":["Розщілина губи/піднебіння зі слизовою кістою нижньої губи","Синдром заїди на губах","VWS"],"definition":"Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate."},"zh":{"name":"Van der Woude综合征","synonyms":["唇裂/腭裂伴下唇粘液囊肿"]},"tr":{"name":"Van der Woude sendromu","synonyms":["VWS","Lip-pit sendromu","Alt dudağın mukoza kistleri ile yarık dudak/damak"]}},"xrefs":[{"source":"OMIM","code":"119300","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"604547","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606713","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q38.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"133440037"},{"source":"MONDO","code":"0019508","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536528","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0175697","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8414","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":728642,"name":"Genetic syndrome or malformation associated with head and neck malformations","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":156237,"name":"Syndrome or malformation associated with head and neck malformations","classifications":[147,200,209]}],"children":[],"genes":[{"symbol":"GRHL3","name":"grainyhead like transcription factor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24360809[PMID]","hgnc":"25839","ensembl":"ENSG00000158055","omim":"608317","loci":["1p36.11"]},{"symbol":"IRF6","name":"interferon regulatory factor 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"6121","ensembl":"ENSG00000117595","omim":"607199","loci":["1q32.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"Finland","status":"Validated","source":"7459520[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.3,"area":"France","status":"Validated","source":"22925539[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"France","status":"Validated","source":"22925539[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.4,"area":"Australia","status":"Validated","source":"20415912[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.85,"area":"Taiwan, Province of China","status":"Validated","source":"18177185[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Taiwan, Province of China","status":"Validated","source":"18177185[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.9,"area":"United States","status":"Validated","source":"9450872[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"United States","status":"Validated","source":"9450872[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.7,"area":"Australia","status":"Validated","source":"34626670[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-06-06","source":"20301581[PMID]_22014507[PMID]_29569458[PMID]","terms":[{"hpo":"HP:0100267","label":"Lip pit","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000196","label":"Lower lip pit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010286","label":"Abnormal salivary gland morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010296","label":"Ankyloglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000204","label":"Cleft upper lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Occasional (29-5%)","criteria":null}]}}