{"orpha":2792,"name":"Otofaciocervical syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Fara-Chlupackova syndrome","OFC syndrome"],"definition":"Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2792/","orphanet_url":"https://www.orpha.net/en/disease/detail/2792","names":{"fr":{"name":"Syndrome oto-facio-cervical","synonyms":["Syndrome OFC","Syndrome de Fara-Chlupackova"],"definition":"Le syndrome oto-facio-cervical est un trouble génétique rare du développement au cours de l'embryogenèse. Il se caractérise par une dysmorphie faciale (visage triangulaire allongé, front large, nez et mandibule étroits, palais ogival), des oreilles dysmorphiques proéminentes (basses implantées, en forme de coupe avec une large conque et un tragus, un antitragus et un lobe hypoplasiques), un long cou, des fistules et/ou des kystes pré-auriculaires et/ou branchiaux, des muscles cervicaux hypoplasiques avec les épaules et les clavicules tombantes, des scapulas ailées, basses et implantées de manière latérale, une atteinte auditive et un léger déficit intellectuel. Des anomalies vertébrales et une petite taille peuvent aussi être associées."},"de":{"name":"Oto-fazio-zervikales Syndrom","synonyms":["Fara-Chlupácková-Syndrom","OFC-Syndrom"],"definition":"Ein seltener, genetischer Entwicklungsdefekt während der Embryogenese, der gekennzeichnet ist durch ausgeprägte Gesichtszüge (langes, dreieckiges Gesicht, breite Stirn, schmale Nase und Unterkiefer, hochgewölbter Gaumen), abstehende, dysmorphe Ohren (tief angesetzt und becherförmig mit großen Ohrmuscheln und hypoplastischem Tragus, Antitragus und Ohrläppchen), langer Hals, präaurikuläre und/oder branchiale Fisteln und/oder Zysten, hypoplastische Nackenmuskulatur mit schrägen Schultern und Schlüsselbeinen, geflügelte, niedrige und seitlich angesetzte Schulterblätter, Hörstörung und leichtes intellektuelles Defizit. Wirbelsäulendefekte und Kleinwuchs können ebenfalls assoziiert sein."},"es":{"name":"Síndrome oto-facio-cervical","synonyms":["Síndrome OFC","Síndrome de Fara-Chlupackova"],"definition":"El síndrome oto-facio-cervical es un síndrome genético poco frecuente de defectos del desarrollo durante la embriogénesis. Se caracteriza por rasgos faciales distintivos (cara triangular alargada, frente ancha, nariz y mandíbula estrechas, paladar alto y arqueado), orejas prominentes y dismórficas (de baja implantación, en forma de taza con conchas grandes y trago, antitrago y lóbulo hipoplásicos), cuello largo, fistulas y/o quistes preauriculares y/o branquiales, músculos cervicales hipoplásicos con hombros y clavículas caídos, escápulas aladas de implantación baja y lateral, deterioro auditivo y leve discapacidad intelectual. Asimismo, puede estar asociado a defectos vertebrales y talla baja."},"it":{"name":"Sindrome oto-facio-cervicale","synonyms":["Sindrome OFC","Sindrome di Fara-Chlupackova"],"definition":"La sindrome oto-facio-cervicale è un difetto genetico raro dello sviluppo dell'embrione, caratterizzato da dismorfismi facciali caratteristici (viso allungato, di forma triangolare, fronte ampia, naso e mandibola stretti e palato ogivale), orecchie prominenti e dismorfiche (a basso impianto, a coppa con conche ampie e ipoplasia del trago, dell'antitrago e del lobo), collo lungo, fistole e/o cisti preauricolari e/o branchiali, ipoplasia dei muscoli cervicali con spalle e clavicole spioventi, scapole alate, ad impianto basso e lateralizzate, ipoacusia e lieve deficit intellettivo. Possono associarsi difetti vertebrali e bassa statura."},"nl":{"name":"Otofaciocervicaal syndroom","synonyms":["OFC-syndroom","Syndroom van Fara-Chlupackova"],"definition":"Otofaciocervicaal syndroom is een zeldzaam, genetisch syndroom met een ontwikkelingsdefect tijdens de embryogenese en wordt gekarakteriseerd door typische gelaatskenmerken (lang driehoekig gezicht, breed voorhoofd, smalle neus en onderkaak, hoge verhemelteboog), prominente en dysmorfe oren (laagstaand en komvormig met grote oorschelp en hypoplastische tragus, antitragus en oorlel), lange hals, pre-auriculaire en/of branchiale fistels en/of cysten, hypoplastische nekspieren met afhangende schouders en sleutelbeenderen, laag en lateraal gesitueerde afstaande schouderbladen, slechthorendheid en milde intellectuele beperking. Defecten aan wervels en een kleine gestalte kunnen ook geassocieerd zijn."},"pt":{"name":"Síndrome oto-facio-cervical","synonyms":["Síndrome Fara-Chlupackova"]},"pl":{"name":"Zespół uszno-twarzowo-szyjny","synonyms":["Zespół Fara i Chlupackova","Zespół OFC"]},"cs":{"name":"Otofaciocervikální syndrom","synonyms":["OFC syndrom","Farův-Chlupáčkové syndrom","Fara-Chlupáčkové syndrom"]},"uk":{"name":"Отофаціоцервікальний синдром","synonyms":["Синдром Фара-Хлупакова","Синдром OFC"],"definition":"Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated."},"zh":{"name":"耳面颈综合征","synonyms":["Fara-Chlupackova综合征"]},"tr":{"name":"Otofasiyoservikal sendrom","synonyms":["OFC sendromu","Fara-Chlupackova sendromu"]}},"xrefs":[{"source":"OMIM","code":"166780","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615560","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008163","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563481","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833691","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4169","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139036,"name":"Branchial arch or oral-acral syndrome","classifications":[147]},{"orpha":183576,"name":"Genetic branchial arch or oral-acral syndrome","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[{"orpha":720357,"name":"Otofaciocervical syndrome with thymic hypoplasia","type":"Clinical subtype"},{"orpha":720341,"name":"Otofaciocervical syndrome without thymic hypoplasia","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"EYA1","name":"EYA transcriptional coactivator and phosphatase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16441263[PMID]","hgnc":"3519","ensembl":"ENSG00000104313","omim":"601653","loci":["8q13.3"],"via":{"orpha":720341,"name":"Otofaciocervical syndrome without thymic hypoplasia"}},{"symbol":"PAX1","name":"paired box 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23851939[PMID]","hgnc":"8615","ensembl":"ENSG00000125813","omim":"167411","loci":["20p11.22"],"via":{"orpha":720357,"name":"Otofaciocervical syndrome with thymic hypoplasia"}}],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"area":"Worldwide","status":"Validated","source":"8558563[PMID]_11409867[PMID]_16441263[PMID]_31379922[PMID]_28657137[PMID]_29681087[PMID]_23851939[PMID]_ 37689091[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"8558563[PMID]_11409867[PMID]_16441263[PMID]_31379922[PMID]_28657137[PMID]_29681087[PMID]_23851939[PMID]_ 37689091[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000889","label":"Abnormality of the clavicle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200021","label":"Down-sloping shoulders","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004467","label":"Preauricular pit","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Occasional (29-5%)","criteria":null}]}}