{"orpha":141000,"name":"Orofaciodigital syndrome type 11","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["OFD11","Oral-facial-digital syndrome type 11","Oral-facial-digital syndrome, Gabrielli type","Orofaciodigital syndrome, Gabrielli type"],"definition":"A rare, sporadic, orofaciodigital syndrome characterized by severe intellectual disability, postaxial polydactyly, vertebral fusion, deafness and congenital heart defects. Characteristic facial features include blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low-set ears.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-141000/","orphanet_url":"https://www.orpha.net/en/disease/detail/141000","names":{"fr":{"name":"Syndrome oro-facio-digital type 11","synonyms":["OFD11","Syndrome oro-facio-digital type Gabrielli"],"definition":"Le syndrome oro-facio-digital type 11 est une forme sporadique extrêmement rare du syndrome oro-facio-digital, avec seulement quelques cas rapportés. Il se caractérise par des malformations faciales (fentes palpébrales obliques en bas et en dehors, blépharophimosis, oreilles basses implantées, large pont nasal, pointe nasale bulbeuse) et squelettiques (polydactylie post-axiale et fusion des vertèbres), ainsi qu'un déficit intellectuel sévère, une surdité et des anomalies cardiaques congénitales."},"de":{"name":"Oro-fazio-digitales Syndrom Typ 11","synonyms":["OFD11","Oro-fazio-digitales Syndrom Typ Gabrielli"],"definition":"Das Oro-fazio-digitale Syndrom Typ 11 ist eine extrem seltene, sporadische Form des Oro-fazio-digitalen Syndroms (OFDS; siehe dort). Nur wenige Patienten mit den folgenden Symptomen wurden beschrieben: Faziale Dysmorphien (Blepharophimose, kolbige Nasenspitze, breiter Nasenrücken, schräg abwärts verlaufende Lidspalten, tiefsitzende Ohren), Skelettfehlbildungen (postaxiale Polydaktylie, Wirbelfusionen), schwere intellektuelle Behinderung, Taubheit und angeborene Herzfehler."},"es":{"name":"Síndrome orofaciodigital tipo 11","synonyms":["OFD11","Síndrome orofaciodigital tipo Gabrielli"],"definition":"El síndrome orofaciodigital tipo 11 es una forma esporádica, extremadamente rara, del síndrome orofaciodigital (OFDS; ver este término) con solo unos pocos casos conocidos, y caracterizada por malformaciones faciales (blefarofimosis, punta de la nariz bulbosa, puente nasal amplio, fisuras palpebrales inclinadas hacia abajo e implantación baja de las orejas) y esqueléticas (polidactilia post-axial y fusión de las vértebras) junto con un déficit intelectual grave, sordera y defectos cardíacos congénitos."},"it":{"name":"Sindrome orofaciodigitale, tipo 11","synonyms":["OFD11","Sindrome oro-facio-digitale, tipo 11","Sindrome oro-facio-digitale, tipo Gabrielli","Sindrome orofaciodigitale, tipo Gabrielli"],"definition":"La sindrome orofaciodigitale tipo 11 è una forma sporadica, estremamente rara, della sindrome orofaciodigitale (OFDS; si veda questo termine). Sono stati descritti solo pochi casi. È caratterizzata da malformazioni facciali (blefarofimosi, punta del naso globosa, rime palpebrali oblique verso il basso e l'esterno, orecchie a basso impianto) e scheletriche (polidattilia postassiale, fusione delle vertebre), associate a grave disabilità cognitiva, sordità e cardiopatie congenite."},"nl":{"name":"Orofaciodigitaal syndroom type 11","synonyms":["Orofaciodigitaal syndroom, Gabrielli-type","OFD11","Oraal-faciaal-digitaal syndroom type 11","Oraal-faciaal-digitaal syndroom, Gabrielli-type"],"definition":"Oro-facio-digitaal syndroom type 11 is een extreem zeldzame, sporadische vorm van oro-facio-digitaal syndroom (OFDS, zie deze term) met slechts enkele gerapporteerde gevallen. Het wordt gekenmerkt door faciale (blefarofimose, bolvormige neustip, brede neusbrug, schuin naar beneden staande oogspleten en laag ingeplante oren) en skeletale (postaxiale polydactylie en fusie van ruggenwervels) malformaties samen met een ernstige intellectuele achterstand, doofheid en aangeboren hartdefecten."},"pt":{"name":"Síndrome orofaciodigital tipo 11"},"pl":{"name":"Zespół ustno-twarzowo-palcowy typu 11","synonyms":["OFD11","Zespół ustno-twarzowo-palcowy, typ Gabrielli"]},"cs":{"name":"Orofaciodigitální syndrom, typ 11","synonyms":["OFD11","Orální-faciální-digitální syndrom, Gabrielliho typ","Orofaciodigitální syndrom, Gabrielliho typ"]},"uk":{"name":"Орофаціодигітальний синдром, тип 11","synonyms":["OFD11","Орально-лицево-пальцевий синдром, тип 11","Орально-лицево-пальцевий синдром, тип Габрієллі","Орофаціально-пальцевий синдром, тип Габрієллі"],"definition":"Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects."},"zh":{"name":"口面指综合征11型","synonyms":["口面指综合征Gabrielli型"],"definition":"口-面-指综合征11型是一种极为罕见、散发性口-面-指综合征（OFDS，见该词条），仅有少数病例报告，其特征是面部（睑裂狭小、球形鼻尖、宽鼻梁、向下眼睑裂和低耳廓）和骨骼（轴后多指（趾）畸形和椎骨融合）畸形伴严重智力残疾、耳聋和先天性心脏缺损。"},"tr":{"name":"Orofasiyodijital sendromu tip 11","synonyms":["OFD11","Oral-fasiyal-dijital sendromu tip 11","Orofasiyodijital sendromu, Gabrielli tipi","Oral-fasiyal-dijital sendromu, Gabrielli tipi"]}},"xrefs":[{"source":"OMIM","code":"612913","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":"826545898"},{"source":"MONDO","code":"0013035","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C557821","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2752048","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4118","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":140997,"name":"Orofaciodigital syndrome","classifications":[147,156,199,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}