{"orpha":3456,"name":"Wildervanck syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cervicooculoacoustic syndrome"],"definition":"Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3456/","orphanet_url":"https://www.orpha.net/en/disease/detail/3456","names":{"fr":{"name":"Syndrome de Wildervanck","synonyms":["Syndrome cervicooculoacoustique"],"definition":"Le syndrome de Wildervanck est caractérisé par une triade clinique comprenant une fusion des vertèbres cervicales (anomalie de Klippel-Feil), une paralysie externe bilatérale avec rétraction oculaire (syndrome de Duane) et une surdité de perception congénitale."},"de":{"name":"Wildervanck-Syndrom","synonyms":["Zerviko-okulo-akustisches Syndrom"],"definition":"Das Wildervanck-Syndrom ist gekennzeichnet durch die Trias Fusion von Halswirbeln (Klippel-Feil-Anomalie), beidseitige Abduzens-Parese mit retrahierten Augen (Duane Syndrom) und angeborene Innenohrschwerhörigkeit."},"es":{"name":"Síndrome de Wildervanck","synonyms":["Síndrome cérvico-ocular-acústico"],"definition":"Es un síndrome caracterizado por la triada: fusión de vértebras cervicales (síndrome de Klippel-Feil), parálisis bilateral del abducens con retracción del globo ocular (síndrome de Duane) y sordera perceptiva congénita."},"it":{"name":"Sindrome di Wildervanck","synonyms":["Sindrome cervico-oculo-acustica"]},"nl":{"name":"Syndroom van Wildervanck","synonyms":["Cervico-oculoakoestisch syndroom"],"definition":"Een syndroom, gekenmerkt door de triade van fusie van cervicale wervels (anomalie van Klippel-Feil), bilaterale verlamming van nervus abducens met retractie van ogen (syndroom van Duane), en congenitale sensorineurale doofheid."},"pt":{"name":"Síndrome Wildervanck","synonyms":["Síndrome cervico-oculo-acústico"],"definition":"O síndrome de Wildervanck é caracterizado pela tríade de fusão de vértebras cervicais (anomalia de Klippel-Feil, ver este termo), paralisia bilateral do abducente com retração ocular (síndrome de Duane, ver este termo) e surdez neurossensorial congénita."},"pl":{"name":"Zespół Wildervancka","synonyms":["Cervicooculoacoustic syndrome"]},"cs":{"name":"Wildervanckův syndrom","synonyms":["Cervico-oculo-acustic syndrom","Fúze krčních obratlů","Cervikookuloakustický syndrom"]},"uk":{"name":"Синдром Вільдерванка","synonyms":["Цервікоокулоакустичний синдром"],"definition":"Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly, see this term), bilateral abducens palsy with retracted eyes (Duane syndrome, see this term) and congenital perceptive deafness."},"zh":{"name":"Wildervanck综合征","synonyms":["颈眼听力障碍综合征"]},"tr":{"name":"Wildervanck sendromu","synonyms":["Servikooküloakustik sendrom"]}},"xrefs":[{"source":"OMIM","code":"314600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010759","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265239","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5569","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10069402","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":93454,"name":"Dysostosis with predominant vertebral and costal involvement","classifications":[147,156,199]},{"orpha":183576,"name":"Genetic branchial arch or oral-acral syndrome","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20534924[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0006897","label":"Abducens palsy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008527","label":"Congenital sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002949","label":"Fused cervical vertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001132","label":"Lens subluxation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002435","label":"Meningocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000538","label":"Pseudopapilledema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Occasional (29-5%)","criteria":null}]}}