{"orpha":398156,"name":"Oculoauriculofrontonasal syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["OAFNS"],"definition":"A rare dysostosis syndrome characterized by vertical, median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations, manifesting with highly variable craniofacial features which include hypertelorism, eyelid colobomas, orbital dystopia, epibulbar dermoids, nasal anomalies (e.g. wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip/palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-398156/","orphanet_url":"https://www.orpha.net/en/disease/detail/398156","names":{"fr":{"name":"Syndrome oculo-auriculo-fronto-nasal","synonyms":["OAFNS"],"definition":"Syndrome rare de dysostose caractérisé par une fente craniofaciale verticale et médiane des structures fronto-naso-maxillaires associée à des malformations auriculo-mandibulaires, se manifestant par des anomalies craniofaciales très variables comprenant un hypertélorisme, des colobomes des paupières, une dystopie orbitaire, des dermoïdes épibulbaires, des anomalies nasales (par ex. pont nasal large, nez bifide, narines très écartées et fendues, dysplasie des os nasaux),une dysplasie de l'oreille externe et de l'oreille moyenne (microtie, sténose auriculaire, fibrochondromes/sinus préauriculaires), une fente labiale/palatine, une hypoplasie mandibulaire/maxillaire et une asymétrie faciale. Des anomalies intracrâniennes et extracraniofaciales sont fréquemment associées."},"de":{"name":"Okulo-aurikulo-fronto-nasales Syndrom","synonyms":["OAFNS"]},"es":{"name":"Síndrome óculo-aurículo-fronto-nasal","synonyms":["OAFNS"],"definition":"El síndrome oculo-auriculo-frontonasal es un síndrome de disostosis poco frecuente, caracterizado por una hendidura craneofacial vertical y mediana de las estructuras fronto-naso-maxilares asociada a malformaciones auriculomandibulares, que se manifiestan con características craneofaciales altamente variables que incluyen hipertelorismo, coloboma palpebral, distopia orbitaria, dermoides epibulbares, anomalías nasales (p.ej. puente nasal ancho, nariz bífida, narinas en forma de hendidura muy separadas, displasia del hueso nasal), displasia auricular y del oído medio (microtia, estenosis auditiva, apéndices cutáneos / fositas pre-auriculares), labio / paladar hendido, hipoplasia mandibular / maxilar y asimetría facial. Se asocian con frecuencia anomalías intracraneales y rasgos extra-craneofaciales."},"it":{"name":"Sindrome oculo-auricolo-fronto-nasale","synonyms":["OAFNS"],"definition":"La sindrome oculo-auricolo-fronto-nasale è una disostosi rara, caratterizzata da schisi craniofacciale mediana verticale delle strutture fronto-naso-mascellari, associata a malformazioni auricolo-mandibolari. I dismorfismi craniofacciali caratteristici sono molto variabili e comprendono l'ipertelorismo, i colobomi palpebrali, la distopia orbitaria, i dermoidi epibulbari, le anomalie del naso (sella nasale ampia, naso bifido, narici iperdistanziate simili a fessure, displasia dell'osso nasale), la displasia dell'orecchio esterno e medio (microtia, stenosi dell'orecchio, fossette/appendici cutanee preauricolari), la labio/palatoschisi, l'ipoplasia mandibolare/mascellare e l'asimmetria del viso. Spesso si associa ad anomalie intracraniche ed extracraniche."},"nl":{"name":"Oculo-auriculo-fronto-nasaal syndroom","synonyms":["OAFNS"],"definition":"Oculo-auriculo-fronto-nasaal syndroom is een zeldzaam dysostosesyndroom dat gekarakteriseerd wordt door verticale, mediane craniofaciale splijting van fronto-naso-maxillaire structuren, geassocieerd met auriculo-mandibulaire malformaties, en dat zich manifesteert met zeer variabele craniofaciale kenmerken waaronder hypertelorisme, colobomen van de oogleden, abnormale positie van de oogkassen, epibulbaire dermoïden, nasale anomalieën (e.g. brede neusbrug, gespleten neus, ver uit elkaar staande en spleetvormige neusgaten, dysplasie van het neusbeen), dysplasie van oorschelp en middenoor (microtie, aurale stenose, pre-auriculaire huidaanhangsels/fistels), gespleten lip/verhemelte, mandibulaire/maxillaire hypoplasie en asymmetrie van het gelaat. Intracraniële afwijkingen en extra-craniofaciale kenmerken zijn frequent geassocieerd."},"pt":{"name":"Síndrome oculoauriculofrontonasal"},"pl":{"name":"Zespół oczno-uszno-czołowo-nosowy","synonyms":["OAFNS"],"definition":"*Zespół oczno-uszno-czołowo-nosowy jest rzadką dyzostozą, która charakteryzuje się pionowym, pośrodkowym rozszczepem czaszkowo-twarzowym struktur czołowo-nosowo-szczękowych wraz z towarzyszącymi wadami uszno - żuchwowymi, powodującymi bardzo zmienne objawy czaszkowo-twarzowe, które obejmują hiperteloryzm, rozszczep powiek, przemieszczenie oczodołów, skórzaki na powierzchni gałek ocznych oraz wady nosa (np.szeroki grzbiet nosa, rozszczep nosa, szeroko rozstawione, szczelinowate nozdrza, dysplazja kości nosowej), dysplazję małżowin usznych i ucha środkowego (małe uszy, zwężenie przewodu słuchowego, przeduszne wyrośla/dołki), rozszczep wargi/podniebienia, hipoplazję żuchwy/szczęki i asymetrię twarzy. Często występują nieprawidłowości wewnątrzczaszkowe i objawy zewnątrzczaszkowe."},"cs":{"name":"Okuloaurikulofrontonazální syndrom","synonyms":["OAFNS"]},"uk":{"name":"Окулоаурикулофронтоназальний синдром","synonyms":["OAFNS"],"definition":"A rare dysostosis syndrome characterized by vertical, median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations, manifesting with highly variable craniofacial features which include hypertelorism, eyelid colobomas, orbital dystopia, epibulbar dermoids, nasal anomalies (e.g. wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip/palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated."},"zh":{"name":"眼耳前额肌综合征","synonyms":["OAFNS"],"definition":"眼鼻畸形综合征是一种罕见的骨发育不全综合征，其特征为与耳下颌畸形相关的额鼻上颌结构的垂直、正中颅面剥离，表现为高度可变的颅面特征，包括眼距过宽、眼睑缺损、眶内斜视、球上皮样瘤、鼻畸形(如宽鼻梁、双裂鼻、广泛分离的狭缝状鼻孔、鼻骨发育不良)、耳和中耳发育不良(小耳畸形、耳狭窄、耳前皮肤标签/凹坑)、唇腭裂、下颌/上颌发育不全和面部不对称。本病还常与颅内异常及颅面外的异常特征有关。"},"tr":{"name":"Oküloaurikülofrontonasal sendrom","synonyms":["OAFNS"]}},"xrefs":[{"source":"OMIM","code":"601452","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011082","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537865","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832352","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4031","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":250,"name":"Frontonasal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":41.0,"area":"Worldwide","status":"Validated","source":"23637006[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23637006[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-08-22","source":"18388775[PMID]","terms":[{"hpo":"HP:0000456","label":"Bifid nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000289","label":"Broad philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410030","label":"Cleft lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001140","label":"Limbal dermoid","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006931","label":"Pericallosal lipoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010609","label":"Skin tags","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000636","label":"Upper eyelid coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null}]}}