{"orpha":2714,"name":"Oculo-palato-cerebral syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Oculo-palato-cerebral dwarfism"],"definition":"A rare orofacial clefting syndrome characterized by persistent hyperplastic primary vitreous, microphthalmia, microcephaly, small hands and feet, and mild-to-severe intellectual disability. Facial dysmorphic features include bulbous nose, full cheeks, and a cleft palate. Other symptoms may include cerebral atrophy, hearing loss and atopic dermatitis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2714/","orphanet_url":"https://www.orpha.net/en/disease/detail/2714","names":{"fr":{"name":"Syndrome oculo-palato-cérébral","synonyms":["Nanisme oculo-palato-cérébral"],"definition":"Syndrome rare avec fente oro-faciale caractérisé par une hyperplasie persistante du vitré primitif, une microphtalmie, une microcéphalie, des mains et des pieds de petite taille, et une déficience intellectuelle légère à sévère. La dysmorphie faciale inclut un nez bulbeux, des joues pleines et une fente palatine. D'autres symptômes peuvent inclure une atrophie cérébrale, une perte de l'acuité auditive et une dermatite atopique."},"de":{"name":"Okulo-palato-zerebrales Syndrom","synonyms":["Kleinwuchs, okulo-palato-zerebraler"],"definition":"Ein seltenes Syndrom mit orofazialer Spaltbildung, das durch einen persistierenden hyperplastischen primären Glaskörper, Mikrozephalie, Mikrophthalmie, kleine Hände und Füße sowie eine leichte bis schwere Intelligenzminderung gekennzeichnet ist. Zu den Gesichtsdysmorphien gehören eine Knollennase, volle Wangen und eine Gaumenspalte. Weitere Symptome können zerebrale Atrophie, Hörverlust und atopische Dermatitis sein."},"es":{"name":"Síndrome óculo-palato-cerebral","synonyms":["Enanismo óculo-palato-cerebral"],"definition":"Es un síndrome de hendidura orofacial poco frecuente caracterizado por hiperplasia persistente del vítreo primario, microftalmia, microcefalia, manos y pies pequeños, y discapacidad intelectual de leve a grave. Los rasgos dismórficos faciales incluyen nariz bulbosa, mejillas prominentes y paladar hendido. Otros síntomas posibles son atrofia cerebral, hipoacusia y dermatitis atópica."},"it":{"name":"Sindrome oculo-palato-cerebrale","synonyms":["Nanismo oculo-palato-cerebrale"]},"nl":{"name":"Oculopalatocerebraal syndroom","synonyms":["Oculopalatocerebrale dwerggroei"],"definition":"Een zeldzaam syndroom van orofaciale schisis, gekenmerkt door persisterend hyperplastisch primair glasvocht, microftalmie, microcefalie, kleine handen en voeten, en milde tot ernstige intellectuele achterstand. Dysmorfe gelaatskenmerken zijn onder meer bolvormige neus, volle wangen, en gespleten gehemelte. Mogelijke andere symptomen zijn onder meer cerebrale atrofie, gehoorverlies en atopische dermatitis."},"pt":{"name":"Nanismo oculo-palato-cerebral"},"pl":{"name":"Zespół oczno-podniebienno-mózgowy","synonyms":["Karłowatość oczno-podniebienno-mózgowa"]},"cs":{"name":"Okulopalatocerebrální syndrom","synonyms":["Okulopalatocerebrální trpaslictví"]},"uk":{"name":"Окулопалатоцеребральний синдром","synonyms":["Окулярно-палато-церебральна карликовість"],"definition":"Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities."},"zh":{"name":"眼-腭-大脑综合征","synonyms":["眼-腭-大脑侏儒症"]},"tr":{"name":"Okülo-palato-serebral sendromu","synonyms":["Okülo-palato-serebral cücelik"]}},"xrefs":[{"source":"OMIM","code":"257910","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"316597537"},{"source":"MONDO","code":"0009769","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564935","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850338","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"3995792[PMID]_11241490[PMID]_15368502[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3995792[PMID]_11241490[PMID]_15368502[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-02-25","source":"3995792[PMID]_11241490[PMID]_100893[PMID]","terms":[{"hpo":"HP:0002099","label":"Asthma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008386","label":"Aplasia/Hypoplasia of the nails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0006913","label":"Frontal cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000555","label":"Leukocoria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007968","label":"Remnants of the hyaloid vascular system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0200055","label":"Small hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000391","label":"Thickened helices","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002283","label":"Global brain atrophy","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Occasional (29-5%)","criteria":null}]}}