{"orpha":2919,"name":"Orofaciodigital syndrome type 5","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["OFD5","Oral-facial-digital syndrome type 5","Orofaciodigital syndrome, Thurston type","Polydactyly postaxial with median cleft of upper lip","Thurston syndrome"],"definition":"A rare developmental disorder of the ciliopathy group characterized by postaxial polydactyly of hands and feet and median cleft of the upper lip. Oral manifestations may be present and can include bifid uvula, duplicated frenulum, enamel hypoplasia and tooth number abnormalities. Some cases might present with intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2919/","orphanet_url":"https://www.orpha.net/en/disease/detail/2919","names":{"fr":{"name":"Syndrome oro-facio-digital type 5","synonyms":["OFD5","Syndrome de Thurston","Syndrome de polydactylie postaxiale-fente labiale médiane","Syndrome orofacial type Thurston"],"definition":"Syndrome oro-facio-digital rare caractérisé par une fente médiane de la lèvre supérieure, une polydactylie postaxiale des mains et des pieds, et des anomalies buccales (duplication du frein de la langue)."},"de":{"name":"Oro-fazio-digitales Syndrom Typ 5","synonyms":["OFD5","Oro-fazio-digitales Syndrom Typ Thurston","Postaxiale Polydaktylie mit medianer Spalte der Unterlippe","Thurston-Syndrom"],"definition":"Ein seltenes orofaziodigitales Syndrom, das durch eine mediane Oberlippenspalte, postaxiale Polydaktylie der Hände und Füße und orale Manifestationen (dupliziertes Frenulum) gekennzeichnet ist."},"es":{"name":"Síndrome orofaciodigital tipo 5","synonyms":["OFD5","Polidactilia postaxial con hendidura mediana en el labio superior","Síndrome de Thurston","Síndrome orofaciodigital tipo Thurston"],"definition":"Es un síndrome orofaciodigital caracterizado por hendidura media del labio superior, polidactilia postaxial de las manos y de los pies, y anomalías orales (frenillos múltiples)."},"it":{"name":"Sindrome orofaciodigitale, tipo 5","synonyms":["OFD5","Polidattilia postassiale con schisi mediana del labbro superiore","Sindrome di Thurston","Sindrome oro-facio-digitale, tipo 5","Sindrome orofaciodigitale, tipo Thurston"]},"nl":{"name":"Orofaciodigitaal syndroom type 5","synonyms":["OFD5","Oraal-faciaal-digitaal syndroom type 5","Orofaciodigitaal syndroom, Thurston-type","Postaxiale polydactylie met mediane splijting van bovenlip","Syndroom van Thurston"],"definition":"Een zeldzaam orofaciodigitaal syndroom, gekenmerkt door mediaan gespleten bovenlip, postaxiale polydactylie van handen en voeten, en orale manifestaties (duplicatie van frenulum)."},"pt":{"name":"Síndrome oro-facio-digital tipo 5","synonyms":["OFD5","Polidactilia pós-axial com fenda mediana do lábio superior","Síndrome oro-facio-digital tipo Thurston"],"definition":"Uma síndrome orofaciodigital rara caracterizada por fenda mediana do lábio superior, polidactilia pós-axial das mãos e dos pés e manifestações orais (freio duplicado)."},"pl":{"name":"Zespół ustno-twarzowo-palcowy typu 5","synonyms":["Zespół ustno-twarzowo-palcowy typu 5","OFD5","Polidaktylia pozaosiowa z pośrodkowym rozszczepem wargi górnej","Zespół Thurstona","Zespół ustno-twarzowo-palcowy, typ Thurstona"]},"cs":{"name":"Orofaciodigitální syndrom, typ 5","synonyms":["OFD5","Orální-faciální-digitální syndrom, typ 5","Orofaciodigitální syndrom, Thurstonův typ","Postaxiální polydaktylie s mediánním rozštěpem horního rtu","Thurstonův syndrom"]},"uk":{"name":"Орофаціодигітальний синдром, тип 5","synonyms":["OFD5","Орально-лицево-пальцевий синдром, тип 5","Орофаціодигітальний синдром, тип Терстона","Полідактилія постаксіальна з серединною розщілиною верхньої губи","Синдром Терстона"],"definition":"A rare orofaciodigital syndrome characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum)."},"zh":{"name":"口-面-指综合征5型","synonyms":["轴后多指（趾）畸形伴上唇正中裂"]},"tr":{"name":"Orofasiyodijital sendromu tip 5","synonyms":["OFD5","Thurston sendromu","Oral-fasiyal-dijital sendromu tip 5","Orofasiyodijital sendromu, Thurston tipi","Üst dudağın medyan yarığı ile seyreden polidaktili postaksiyal"]}},"xrefs":[{"source":"OMIM","code":"174300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD25.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1559005665"},{"source":"MONDO","code":"0008267","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C557819","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1868118","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4120","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":369902,"name":"OBSOLETE: DDX59-related orofaciodigital syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":140997,"name":"Orofaciodigital syndrome","classifications":[147,156,199,200,209]}],"children":[],"genes":[{"symbol":"DDX59","name":"DEAD-box helicase 59","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23972372[PMID]","hgnc":"25360","ensembl":"ENSG00000118197","omim":"615464","loci":["1q32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"7150858[PMID]_23972372[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7150858[PMID]_23972372[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-12","source":"23972372[PMID]_16731396[PMID]_20305860[PMID]_23524810[PMID]_7426821[PMID]","terms":[{"hpo":"HP:0000161","label":"Median cleft lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001830","label":"Postaxial foot polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000288","label":"Abnormality of the philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000191","label":"Accessory oral frenulum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010297","label":"Bifid tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000190","label":"Abnormal oral frenulum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010800","label":"Absent cupid's bow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012738","label":"Agenesis of canine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000185","label":"Cleft soft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004736","label":"Crossed fused renal ectopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010441","label":"Ectopic accessory finger-like appendage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005817","label":"Postaxial polysyndactyly of foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011069","label":"Supernumerary tooth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null}]}}