{"orpha":2754,"name":"Orofaciodigital syndrome type 6","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Joubert syndrome with oral-facial-digital syndrome","Joubert syndrome with orofaciodigital defect","OFD6","Oral-facial-digital syndrome type 6","Polydactyly-cleft lip/palate-psychomotor retardation syndrome","Váradi syndrome","Váradi-Papp syndrome"],"definition":"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2754/","orphanet_url":"https://www.orpha.net/en/disease/detail/2754","names":{"fr":{"name":"Syndrome orofaciodigital type 6","synonyms":["OFD6","Syndrome de Joubert avec atteinte orofaciodigitale","Syndrome de Váradi","Syndrome de Váradi-Papp","Syndrome de polydactylie-fente labiopalatine-retard psychomoteur"],"definition":"Le syndrome de Joubert avec atteinte orofaciodigitale (ou syndrome orofaciodigital de type 6) est une forme très rare du groupe des maladies associées au syndrome de Joubert (SJMA) et se caractérise par l'association des signes neurologiques du syndrome de Joubert à des anomalies buccofaciales et souvent une polydactylie."},"de":{"name":"Oro-fazio-digitales Syndrom Typ 6","synonyms":["Joubert-Syndrom mit oro-fazio-digitalem Defekt","OFD6","Polydaktylie-Lippen-/Gaumenspalte-psychomotorische Entwicklungsverzögerung-Syndrom","Váradi-Papp-Syndrom","Váradi-Syndrom"],"definition":"Das Joubert-Syndrom mit oro-fazio-digitalem Defekt ist ein sehr seltener Subtyp des Joubert-Syndroms und verwandter Krankheiten (JSRDs; s. dort) und gekennzeichnet durch die neurologischen Symptome des JS in Verbindung mit oro-fazialen Anomalien und oft Polydaktylie."},"es":{"name":"Síndrome orofaciodigital tipo 6","synonyms":["OFD6","Síndrome de Joubert con defecto orofaciodigital","Síndrome de Joubert con síndrome oro-facio-digital","Síndrome de Váradi","Síndrome de Váradi-Papp","Síndrome de polidactilia-fisura labiopalatina-retraso psicomotor","Síndrome oro-facio-digital tipo 6"],"definition":"El síndrome de Joubert (SJ) con defecto orofaciodigital es un subtipo muy poco frecuente del síndrome de Joubert y trastornos relacionados (JSRD, consulte este término), y se caracteriza por los rasgos neurológicos del SJ asociados a anomalías orofaciales y, a menudo, polidactilia."},"it":{"name":"Sindrome di Joubert con difetto oro-facio-digitale","synonyms":["OFD6","Polidattilia - labio/palatoschisi - ritardo psicomotorio","Sindrome di Varadi-Papp","Sindrome di Váradi","Sindrome orale-facciale-digitale, tipo 6","Sindrome oro-facio-digitale, tipo 6"],"definition":"La sindrome di Joubert con difetti oro-facio-digitali è un sottogruppo molto raro della sindrome di Joubert e dei disturbi correlati (JSRD; si veda questo termine); è caratterizzato dai segni neurologici della JS associati ad anomalie orofacciali e spesso polidattilia."},"nl":{"name":"Orofaciodigitaal syndroom type 6","synonyms":["OFD6","Oraal-faciaal-digitaal syndroom type 6","Polydactylie - gespleten lip/verhemelte - psychomotorische retardatie-syndroom","Syndroom van Joubert met oraal-faciaal-digitaal syndroom","Syndroom van Joubert met orofaciodigitaal defect","Syndroom van Váradi","Syndroom van Váradi-Papp"],"definition":"Syndroom van Joubert met oro-facio-digitaal defect is een zeer zeldzaam subtype van syndrom van Joubert en aanverwante aandoeningen (JSRD; zie deze term) gekarakteriseerd door de neurologische kenmerken van JS in combinatie met orofaciale afwijking en vaak polydactylie."},"pt":{"name":"Síndrome oro-facio-digital tipo 6","synonyms":["OFD6","Síndrome Joubert com defeito oro-facio-digital"],"definition":"A síndrome de Joubert com deficiência orofaciodigital é um subtipo raro da síndrome de Joubert e doenças relacionadas (JSRD, ver este termo), caracterizada pelas manifestações neurológicas da JS associadas a anomalias orofaciais e muitas vezes polidactilia."},"pl":{"name":"Zespół Jouberta ze spektrum ustno-twarzowo-palcowym","synonyms":["OFD6","Polidaktylia - rozszczep wargi/podniebienia - opóźnienie rozwoju psychomotorycznego","Zespół ustno-twarzowo-palcowy typu 7","Zespół ustno-twarzowo-palcowy typu 7","Zespół Váradi","Zespół Váradi i Pappa"]},"cs":{"name":"Joubertův syndrom s orofaciodigitálním defektem","synonyms":["OFD6","Orofaciodigitální syndrom, typ 6","Váradiové syndrom","Syndrom zahrnující polydaktylii, rozštěp rtu/patra a psychomotorickou retardaci","Váradiové-Pappův syndrom","Váradi-Pappův syndrom"]},"uk":{"name":"Орофаціодигітальний синдром, тип 6","synonyms":["Синдром Жубера з орально-лицево-пальцевим синдромом","Синдром Жубера з орофаціально-пальцевим дефектом","OFD6","Орально-лицево-пальцевий синдром, тип 6","Синдром полідактилії - розщілини губи/піднебіння - затримки психомоторного розвитку","Синдром Вараді","Синдром Вараді-Паппа"],"definition":"Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly."},"zh":{"name":"口面指综合征6型","synonyms":["多指(趾)畸形-唇/腭裂-精神运动发育迟缓综合征"]},"tr":{"name":"Orofasiyodijital sendrom tip 6","synonyms":["OFD6","Váradi sendromu","Váradi-Papp sendromu","Oral-fasiyal-dijital sendromu tip 6","Orofasiyodijital defekt ile seyreden Joubert sendromu","Oral-fasiyal-dijital sendrom ile seyreden Joubert sendromu","Polidaktili-yarık dudak / damak-psikomotor gerilik sendromu"]}},"xrefs":[{"source":"OMIM","code":"277170","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"300804","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614815","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615665","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617127","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618763","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD25.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1990646046"},{"source":"MONDO","code":"0010176","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536531","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2745997","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4412","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2752,"name":"Orofaciodigital syndrome type 3","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":140874,"name":"Joubert syndrome","classifications":[147,156,181,189]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":140997,"name":"Orofaciodigital syndrome","classifications":[147,156,199,200,209]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"PDE6D","name":"phosphodiesterase 6D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24166846[PMID]","hgnc":"8788","ensembl":"ENSG00000156973","omim":"602676","loci":["2q37.1"]},{"symbol":"CPLANE1","name":"ciliogenesis and planar polarity effector complex subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24178751[PMID]","hgnc":"25801","ensembl":"ENSG00000197603","omim":"614571","loci":["5p13.2"]},{"symbol":"FAM149B1","name":"family with sequence similarity 149 member B1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30905400[PMID]","hgnc":"29162","ensembl":"ENSG00000138286","omim":"618413","loci":["10q22.2"]},{"symbol":"KIAA0753","name":"KIAA0753","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26643951[PMID]","hgnc":"29110","ensembl":"ENSG00000198920","omim":"617112","loci":["17p13.1"]},{"symbol":"KIF7","name":"kinesin family member 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301500[PMID]_21633164[PMID]","hgnc":"30497","ensembl":"ENSG00000166813","omim":"611254","loci":["15q26.1"]},{"symbol":"OFD1","name":"OFD1 centriole and centriolar satellite protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301500[PMID]","hgnc":"2567","ensembl":"ENSG00000046651","omim":"300170","loci":["Xp22.2"]},{"symbol":"TCTN3","name":"tectonic family member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22883145[PMID]_20301500[PMID]","hgnc":"24519","ensembl":"ENSG00000119977","omim":"613847","loci":["10q24.1"]},{"symbol":"TMEM216","name":"transmembrane protein 216","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20615230[PMID]_20301500[PMID]","hgnc":"25018","ensembl":"ENSG00000187049","omim":"613277","loci":["11q13.1"]},{"symbol":"TMEM231","name":"transmembrane protein 231","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26982032[PMID]","hgnc":"37234","ensembl":"ENSG00000205084","omim":"614949","loci":["16q23.1"]},{"symbol":"TOPORS","name":"TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34132027[PMID]","hgnc":"21653","ensembl":"ENSG00000197579","omim":"609507","loci":["9p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"20512146[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20512146[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-11","source":"20615230[PMID]_17377524[PMID]_2309783[PMID]_23523602[PMID]_8256802[PMID]_2309783[PMID]_7381865[PMID]","terms":[{"hpo":"HP:0000190","label":"Abnormal oral frenulum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008689","label":"Bilateral cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040019","label":"Finger clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011802","label":"Hamartoma of tongue","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007036","label":"Hypoplasia of olfactory tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000180","label":"Lobulated tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002419","label":"Molar tooth sign on MRI","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100258","label":"Preaxial polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001159","label":"Syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000199","label":"Tongue nodules","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006145","label":"Central Y-shaped metacarpal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002876","label":"Episodic tachypnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001829","label":"Foot polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002444","label":"Hypothalamic hamartoma","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0100260","label":"Mesoaxial polydactyly","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0009084","label":"Midline notch of upper alveolar ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}