{"orpha":141007,"name":"Orofaciodigital syndrome type 9","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["OFD9","Oral-facial-digital syndrome type 9","Oral-facial-digital syndrome with retinal abnormalities","Orofaciodigital syndrome with retinal abnormalities"],"definition":"A rare developmental disorder of the ciliopathy group characterized by highly arched palate with bifid and lobulated tongue, lingual hamartoma, multiple frenula, bilateral supernumerary lower canines, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid hallux, poly- and syndactyly, mild intellectual disability and specific retinal abnormalities mostly retinal coloboma. Brain structural anomalies may also be observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-141007/","orphanet_url":"https://www.orpha.net/en/disease/detail/141007","names":{"fr":{"name":"Syndrome oro-facio-digital type 9","synonyms":["OFD9","Syndrome oro-facio-digital avec anomalies rétiniennes"],"definition":"Le syndrome oro-facio-digital de type 9 est caractérisé par un palais ogival avec bifidité linguale et des canines inférieures surnuméraires bilatérales, une langue hamartomateuse, la présence de freins multiples, un hypertélorisme, un télécanthus, un strabisme, un élargissement et/ou une bifidité de la pointe du nez, une petite taille, une bifidité des gros orteils, un métatarse en V, une poly- syndactylie, un déficit intellectuel léger et des anomalies rétiniennes spécifiques (colobome bilatéral du disque optique et dysplasie rétinienne avec décollement partiel)."},"de":{"name":"Oro-fazio-digitales Syndrom Typ 9","synonyms":["OFD9","Oro-fazio-digitales Syndrom mit retinalen Anomalien"],"definition":"Der Typ 9 des Oro-fazio-digitalen Syndroms ist gekennzeichnet durch hohen Gaumen, gekerbte Zunge, beidseitig überzählige Unterkiefer-Eckzähne, Zungenhamartome, multiple Frenula, Hypertelorismus, Telekanthus, Strabismus, breite und/oder gekerbte Nasenspitze, Kleinwuchs, gedoppelte Großzehe mit gegabeltem Metatarsale, Poly- und Syndaktylie, leichtes intellektuelles Defizit und spezifische Anomalien der Netzhaut (beiderseitiges Kolobom der Sehnervenpapille, Netzhautdysplasie mit partieller Netzhautablösung)."},"es":{"name":"Síndrome orofaciodigital tipo 9","synonyms":["OFD9","Síndrome orofaciodigital con anomalías de la retina"],"definition":"El síndrome orofaciodigital tipo 9 está caracterizado por paladar ojival con lengua bífida y caninos inferiores supernumerarios bilaterales, hamartoma lingual, frenillos múltiples, hipertelorismo, telecanto, estrabismo, punta nasal ancha y/o bífida, talla baja, hallux bífido, metatarsianos bífidos, poli- y sindactilia, déficit intelectual leve y anomalías específicas de la retina (coloboma bilateral del disco óptico y displasia retiniana con desprendimiento parcial)."},"it":{"name":"Sindrome orofaciodigitale, tipo 9","synonyms":["OFD9","Sindrome oro-facio-digitale con anomalie retiniche","Sindrome oro-facio-digitale, tipo 9","Sindrome orofaciodigitale con anomalie retiniche"]},"nl":{"name":"Orofaciodigitaal syndroom type 9","synonyms":["OFD9","Oraal-faciaal-digitaal syndroom met retinale afwijkingen","Oraal-faciaal-digitaal syndroom type 9","Orofaciodigitaal syndroom met retinale afwijkingen"],"definition":"Een syndroom, gekenmerkt door hoog gebogen gehemelte met bifide tong en bilateraal overtallige onderste hoektanden, hamartomateuze tong, multipele frenula, hypertelorisme, telecanthus, strabisme, brede en/of bifide neuspunt, kleine gestalte, bifide halluces, gevorkte metatarsalen, poly- en syndactylie, milde intellectuele achterstand, en specifieke afwijkingen van retina (bilateraal coloboom van oogzenuwkop en dysplasie van retina met partiële netvliesloslating)."},"pt":{"name":"Síndrome orofaciodigital tipo 9","definition":"O síndrome oro-facio-digital tipo 9 é caracterizado por um palato alta e arqueado com língua bífida e caninos inferiores bilaterais supranumerários, língua hamartomatosa, freios múltiplos, hipertelorismo, telecanto, estrabismo, ponta nasal larga e/ou bífida, baixa estatura, halux bífido, metatarso bifurcado, poli e sindactilia, atraso mental ligeiro e anomalias específicas da retina (coloboma bilateral do disco óptico e displasia da retina com descolamento parcial)."},"pl":{"name":"Zespół ustno-twarzowo-palcowy typu 9","synonyms":["OFD9","Zespół ustno-twarzowo-palcowy z nieprawidłowościami siatkówki"]},"cs":{"name":"Orofaciodigitální syndrom, typ 9","synonyms":["OFD9","Orální-faciální-digitální syndrom s abnormalitami sítnice","Orofaciodigitální syndrom s abnormalitami sítnice"]},"uk":{"name":"Орофаціодигітальний синдром, тип 9","synonyms":["OFD9","Орально-лицево-пальцевий синдром, тип 9","Орально-лицево-пальцевий синдром з аномаліями сітківки","Орофаціально-пальцевий синдром з аномаліями сітківки"],"definition":"Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment)."},"zh":{"name":"口面指综合征9型","synonyms":["口面指综合征伴视网膜异常"],"definition":"口-面-指综合征9型，其特征是高腭穹伴二裂舌和双侧下尖牙、舌错构、多系带、眼距过宽、内眦距过宽、斜视、宽鼻尖和/或鼻尖裂、身材矮小、拇趾分叉、跖骨分叉、多指（趾）和并指（趾）畸形，轻度智力缺陷和特殊视网膜异常（双侧视神经盘缺损和视网膜发育不良伴部分脱落）。"},"tr":{"name":"Orofasiyodijital sendromu tip 9","synonyms":["OFD9","Oral-fasiyal-dijital sendromu tip 9","Retina anormallikleri olan orofasiyodijital sendromu","Retina anormallikleri olan oral-fasiyal-dijital sendrom"]}},"xrefs":[{"source":"OMIM","code":"258865","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":"1708177172"},{"source":"MONDO","code":"0009795","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C557818","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796102","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10520","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]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[{"symbol":"TBC1D32","name":"TBC1 domain family member 32","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"32060556[PMID]","hgnc":"21485","ensembl":"ENSG00000146350","omim":"615867","loci":["6q22.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}