{"orpha":2712,"name":"Oculofaciocardiodental syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome","OFCD syndrome"],"definition":"Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2712/","orphanet_url":"https://www.orpha.net/en/disease/detail/2712","names":{"fr":{"name":"Syndrome oculo-facio-cardio-dentaire","synonyms":["Syndrome OFCD","Syndrome de cataracte-microphtalmie-radiculomégalie-défaut du septum cardiaque"],"definition":"Le syndrome oculo-facio-cardio-dentaire (SOFCD) est un syndrome d'anomalies congénitales multiples caractérisé par une radiculomégalie dentaire, une cataracte congénitale, une dysmorphie faciale et une anomalie cardiaque congénitale."},"de":{"name":"Okulo-fazio-kardio-dentales Syndrom","synonyms":["Katarakt - Mikrophthalmie - Radikulomegalie - Herzseptumdefekt","OFCD-Syndrom"],"definition":"Das Okulo-fazio-kardio-dentale Syndrom (OFCD) ist ein sehr seltenes Syndrom mit multiplen Fehlbildungen ('<i>multiple congenital anomaly syndrome</i>'). Charakteristische Symptome sind: Sehr lange Zahnwurzeln (Radikulomegalie), kongenitale Katarakt, faziale Dysmorphien und angeborene Herzfehler."},"es":{"name":"Síndrome óculo-facio-cardio-dental","synonyms":["Microftalmia sindrómica tipo 2","Síndrome OFCD","Síndrome de catarata-microftalmia-radiculomegalia-defecto septal cardíaco"],"definition":"El síndrome óculo-facio-cardio-dental (OFCD) es un síndrome muy raro con múltiples anomalías congénitas, caracterizado por radiculomegalia dental, cataratas congénitas, dismorfia facial y cardiopatía congénita."},"it":{"name":"Sindrome oculo-facio-cardio-dentale","synonyms":["Cataratta - microftalmia - radiculomegalia - difetto del setto cardiaco","Sindrome OFCD"]},"nl":{"name":"Oculofaciocardiodentaal syndroom","synonyms":["Cataract - microftalmie - radiculomegalie - hartseptumdefect-syndroom","OFCD-syndroom"],"definition":"Oculofaciocardiodentaal syndroom (OFCD) is een zeer zeldzaam syndroom met multipele congenitale anomalieën, gekenmerkt door dentale radiculomegalie, congenitaal cataract, faciale dysmorfie, en congenitale hartziekte."},"pt":{"name":"Síndrome oculo-facio-cardio-dentário","synonyms":["Síndrome OFCD","Síndrome catarata-microftalmia-radiculomegalia-defeito do septo cardíaco"]},"pl":{"name":"Zespół oczno-twarzowo-sercowo-zębowy","synonyms":["Zaćma - mikroftalmia - radikulomegalia - wada przegrody serca","Zespół OFCD"]},"cs":{"name":"Okulofaciokardiodentální syndrom","synonyms":["OFCD syndrom","Syndrom zahrnující kataraktu, mikrooftalmii, radikulomegalii a defekt srdečního septa"]},"uk":{"name":"Окулофаціокардіодентальний синдром","synonyms":["Синдром катаракти-мікрофтальмії-радикуломегалії-дефекту міжпередсердної перегородки","Синдром OFCD"],"definition":"Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease."},"zh":{"name":"眼面心牙综合征","synonyms":["白内障-小眼-神经根肿大-心脏间隔缺损综合征"]},"tr":{"name":"Okülofasiyokardiyodental sendrom","synonyms":["OFCD sendromu","Katarakt-mikroftalmi-radikülomegali-kardiyak septal defekt sendromu"]}},"xrefs":[{"source":"OMIM","code":"300166","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD21.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"558977413"},{"source":"UMLS","code":"C1846265","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4628","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":3013,"name":"Radiculomegaly of canine teeth- congenital cataract","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":98638,"name":"Rare disease with glaucoma as a major feature","classifications":[156,189]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]},{"orpha":202948,"name":"Syndromic microphthalmia-anophthalmia-coloboma","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"BCOR","name":"BCL6 corepressor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22301464[PMID]_15004558[PMID]_15770227[PMID]","hgnc":"20893","ensembl":"ENSG00000183337","omim":"300485","loci":["Xp11.4"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000456","label":"Bifid nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001169","label":"Broad palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010327","label":"Flexion contracture of the 2nd toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010339","label":"Flexion contracture of the 4th toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011090","label":"Fused teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001765","label":"Hammertoe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000677","label":"Oligodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000176","label":"Submucous cleft hard palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000692","label":"Tooth malposition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002967","label":"Cubitus valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001083","label":"Ectopia lentis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004969","label":"Peripheral pulmonary artery stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006315","label":"Single median maxillary incisor","frequency":"Occasional (29-5%)","criteria":null}]}}