{"orpha":508501,"name":"Orofaciodigital syndrome type 18","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["OFD18","Oral-facial-digital syndrome type 18","Oral-facial-digital syndrome with short stature and brachymesophalangy"],"definition":"A rare developmental disorder of the ciliopathy group characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-508501/","orphanet_url":"https://www.orpha.net/en/disease/detail/508501","names":{"fr":{"name":"Syndrome orofaciodigital type 18","synonyms":["OFD18","Syndrome oro-facio-digital avec petite taille et brachymésophalangie"],"definition":"Ciliopathie caractérisée par des anomalies buccales (multiples freins bucaux , incisives manquantes), une dysmorphie faciale (visage de forme carré, petit front, fentes palpébrales tournées vers le bas et fente labiale,), des malformations digitales (brachydactylie, brachymesophalangie, polydactylie) et une petite taille. Parmi les autres signes cliniques rapportés, on observe une tête fémorale courte, des côtes cervicales bilatérales, des anomalies des corps vertébraux et des os longs graciles."},"de":{"name":"Oro-fazio-digitales Syndrom Typ 18","synonyms":["OFD18","Oro-Fazio-Digitales Syndrom mit Kleinwuchs und Brachymesophalangie"],"definition":"Eine seltene Ziliopathie, die durch orale Anomalien (multiple orale Frenula, fehlende Schneidezähne), Gesichtsdysmorphien (u. a. quadratisches Gesicht mit kleiner Stirn, aufsteigende Lidachsen und Lippenspalte), digitale Anomalien (Brachydaktylie, Brachymesophalangie, Polydaktylie) und Kleinwuchs gekennzeichnet ist. Zu den weiteren berichteten Manifestationen gehören ein kurzer Oberschenkelhals, beidseitige Halsrippen, abnorme Wirbelkörper und grazile Röhrenknochen."},"es":{"name":"Síndrome orofaciodigital tipo 18","synonyms":["OFD18","Síndrome oral-facial-digital tipo 18","Síndrome orofaciodigital con talla baja y braquimesofalangia"],"definition":"Es una ciliopatía poco frecuente caracterizada por anomalías orales (frenillo oral múltiple, agenesia de incisivos), dismorfia facial (como cara cuadrada con frente pequeña, fisuras palpebrales ascendentes y labio leporino, entre otras características), anomalías digitales (braquidactilia, braquimesofalangia, polidactilia), y talla baja. Otras manifestaciones descritas incluyen cuello femoral corto, costillas cervicales bilaterales, cuerpos vertebrales anómalos y huesos largos gráciles."},"it":{"name":"Sindrome orofaciodigitale tipo 18","synonyms":["Sindrome oro-facio-digitale con bassa statura e brachimesofalangia","OFD18","Sindrome oro-facio-digitale tipo 18"],"definition":"Si tratta di una ciliopatia rara caratterizzata da anomalie della bocca (frenuli orali multipli, assenza degli incisivi), dismorfismi facciali (viso squadrato con fronte piccola, rime palpebrali oblique verso l'alto e labioschisi), anomalie delle dita (brachidattilia, brachimesofalangia, polidattilia) e bassa statura. Altri segni clinici sono l'accorciamento del collo del femore, le costole cervicali bilaterali, le anomalie dei corpi vertebrali e l'assottigliamento delle ossa lunghe."},"nl":{"name":"Orofaciodigitaal syndroom type 18","synonyms":["OFD18","Oraal-faciaal-digitaal syndroom met kleine gestalte en brachymesofalangie","Oraal-faciaal-digitaal syndroom type 18"],"definition":"Een zeldzame ciliopathie, gekarakteriseerd door orale anomalieen (multipele orale frenula, ontbrekende snijtanden), faciale dysmorfie (met onder meer vierkant gelaat met klein voorhoofd, opwaarts hellende ooglidspleten, en gespleten lip), digitale anomalieen (brachydactylie, brachymesofalangie, polydactylie), en kleine gestalte. Bijkomende manifestaties die werden gerapporteerd, zijn onder meer korte femurhals, bilaterale cervicale ribben, abnormale wervellichamen, en dunne pijpbeenderen."},"pt":{"name":"Síndrome oro-facio-digital com baixa estatura e braquimesofalangia"},"pl":{"name":"Zespół ustno-twarzowo-palcowy typu 18","synonyms":["OFD18","Oralfacialdigital syndrome typu 18","Zespół ustno-twarzowo-palcowy typu 18"]},"cs":{"name":"Orofaciodigitální syndrom s malým vzrůstem a brachymezofalangií","synonyms":["OFD18","Orofaciodigitální syndrom, typ 18"]},"uk":{"name":"Орофаціодігітальний синдром з низьким зростом і брахімезофалангією","synonyms":["OFD18","Орально-лицево-пальцевий синдром, тип 18","Орофаціально-дигітальний синдром, тип 18"],"definition":"A rare ciliopathy characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones."},"zh":{"name":"口-面-指综合征伴有身材矮小和趾畸形","synonyms":["口-面-指综合征18型"]},"tr":{"name":"Kısa boy ve brakiimofalangili ile seyreden oral-fasyal-dijital sendrom","synonyms":["OFD18","Orofasiyodijital sendromu tip 18","Oral-fasiyal-dijital sendromu tip 18"]}},"xrefs":[{"source":"OMIM","code":"617927","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0034823","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"34823","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"54770","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567903","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":363250,"name":"Ciliopathy","classifications":[156]},{"orpha":140997,"name":"Orofaciodigital syndrome","classifications":[147,156,199,200,209]}],"children":[],"genes":[{"symbol":"IFT57","name":"intraflagellar transport 57","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27060890[PMID]","hgnc":"17367","ensembl":"ENSG00000114446","omim":"606621","loci":["3q13.12-q13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"27060890[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27060890[PMID]"}],"phenotypes":null}