{"orpha":66625,"name":"Cerebrooculonasal syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by abnormally shaped nose with bilateral proboscis-like nares, bilateral microphthalmia/anophthalmia (exceptionally may be missing in some patients), central nervous system anomalies, neurodevelopmental delay and intellectual disability. Majority of the patients present with brachycephaly/macrobrachycephaly and facial dysmorphism including large forehead, flat supraorbital ridges, sparse and medially absent eyebrows, sparse eyelashes, hypertelorism, telecanthus, epicanthic folds, downslanting palpebral fissures, malar hypoplasia, posteriorly rotated ears with a hypoplastic tragus and large conchae, large philtrum, high-arched and narrow palate, atypical cleft lip and single maxillary central incisor. Additional clinical features may involve bilateral frontal encephalocele, postaxial polydactyly, genital hypoplasia, cryptorchidism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-66625/","orphanet_url":"https://www.orpha.net/en/disease/detail/66625","names":{"fr":{"name":"Syndrome cérébrooculonasal","definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par un nez de forme anormale et des narines en trompette, une microphthalmie ou une anophtalmie bilatérale (qui peut exceptionnellement être absente chez certains patients), des anomalies du système nerveux central, un retard neurodéveloppemental et une déficience intellectuelle. La majorité des patients présentent une brachycéphalie/macrobrachycéphalie et une dysmorphie faciale se manifestant par un front large, des arcades sourcilières plates, des sourcils clairsemés, absents en position médiale, des cils clairsemés, un hypertélorisme, un télécanthus, un épicanthus, des fentes palpébrales orientées vers le bas, une hypoplasie malaire, des oreilles orientées vers l'arrière, un tragus hypoplasique et de grandes conques, un philtrum large, un palais ogival, une fente labiale atypique et une incisive centrale maxillaire unique. D'autres caractéristiques cliniques peuvent inclure une encéphalocèle frontale bilatérale, une polydactylie post-axiale, une hypoplasie des organes génitaux et une cryptorchidie."},"de":{"name":"Zerebro-okulo-nasales Syndrom","definition":"Das Zerebro-okulo-nasale Syndrom ist ein multisystemisches Fehlbildungssyndrom, mit beidseitiger Anophthalmie, auffälligen Nasenlöcher, ZNS-Anomalien und verzögerter neurologische Entwicklung."},"es":{"name":"Síndrome cerebro-óculo-nasal","definition":"Es un síndrome dismórfico/de múltiples anomalías congénitas poco frecuente, caracterizado por una nariz de forma anómala con narinas bilaterales en forma de probóscide, microftalmia/anoftalmia bilateral (excepcionalmente ausente en algunos pacientes), anomalías del sistema nervioso central, retraso del neurodesarrollo y discapacidad intelectual. La mayoría de los pacientes presenta braquicefalia/macrobraquicefalia y dismorfia facial, incluyendo frente amplia, arcos supraorbitarios planos, cejas escasas y ausentes medialmente, pestañas escasas, hipertelorismo, telecanto, pliegues epicánticos, fisuras palpebrales de inclinación descendente, hipoplasia malar, orejas rotadas posteriormente con trago hipoplásico y cornetes grandes, filtrum grande, paladar ojival y estrecho, hendidura labial atípica e incisivo central maxilar único. Otras características clínicas pueden incluir encefalocele frontal bilateral, polidactilia postaxial, hipoplasia genital y criptorquidia."},"it":{"name":"Sindrome cerebro-oculo-nasale"},"nl":{"name":"Cerebro-oculonasaal syndroom","definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door abnormaal gevormde neus met bilateraal proboscis-achtige neusgaten, bilaterale microftalmie/anoftalmie (kan uitzonderlijk afwezig zijn bij sommige patiënten), anomalieën van centraal zenuwstelsel, neurologische ontwikkelingsachterstand en intellectuele achterstand. De meerderheid van de patiënten presenteert zich met brachycefalie/macrobrachycefalie en faciale dysmorfie, met onder meer groot voorhoofd, platte supraorbitale randen, schaarse en mediaal afwezige wenkbrauwen, schaarse wimpers, hypertelorisme, telecanthus, epicanthusplooien, schuin naar beneden hellende ooglidspleten, hypoplasie van jukbeenderen, naar achteren gedraaide oren met een hypoplastische tragus en grote conchae, groot filtrum, hoog gebogen en smal gehemelte, atypisch gespleten lip, en een enkelvoudige bovenste centrale snijtand. Mogelijke bijkomende klinische kenmerken zijn onder meer bilaterale frontale encefalocele, postaxiale polydactylie, hypoplasie van genitaliën, en cryptorchisme."},"pt":{"name":"Síndrome cerebro-oculo-nasal"},"pl":{"name":"Zespół mózgowo-oczno-nosowy"},"cs":{"name":"Cerebrookulonazální syndrom"},"uk":{"name":"Цереброокулоназальний синдром","definition":"Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay."},"zh":{"name":"脑眼鼻综合征"},"tr":{"name":"Serebrookülonazal sendrom"}},"xrefs":[{"source":"OMIM","code":"605627","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"348906395"},{"source":"MONDO","code":"0011575","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565313","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1854108","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3480","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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":269564,"name":"Genetic syndrome with a central nervous system malformation as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":21.0,"area":"Worldwide","status":"Validated","source":"19206156[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19206156[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"8266999[PMID]","terms":[{"hpo":"HP:0005288","label":"Abnormality of the nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000528","label":"Anophthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100729","label":"Large face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009891","label":"Underdeveloped supraorbital ridges","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012639","label":"Abnormal nervous system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009912","label":"Abnormal tragus morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002006","label":"Facial cleft","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006315","label":"Single median maxillary incisor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000653","label":"Sparse eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000687","label":"Widely spaced teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010806","label":"U-Shaped upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null}]}}