{"orpha":2048,"name":"Foix-Chavany-Marie syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Bilateral anterior opercular syndrome","Facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation","Facio-pharyngo-glosso-masticatory diplegia"],"definition":"A rare cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2048/","orphanet_url":"https://www.orpha.net/en/disease/detail/2048","names":{"fr":{"name":"Syndrome de Foix-Chavany-Marie","synonyms":["Diplégie facio-linguo-masticatrice","Syndrome operculaire antérieur bilatéral"],"definition":"Le syndrome de Foix-Chavany-Marie (syndrome de FCM) est une paralysie suprabulbaire ou pseudobulbaire cortico-souscorticale des nerfs crâniens inférieurs, caractérisée par une dysarthrie sévère et une dysphagie associée à une paralysie facio-linguo-masticatrice centrale bilatérale, avec une importante dissociation automatico-volontaire et préservation des mouvements involontaires des muscles touchés."},"de":{"name":"Foix-Chavany-Marie-Syndrom","synonyms":["Diplegie, fazio-pharyngo-glosso-mastikatorische","Fazio-pharyngo-linguale Diplegie mit willkürlich-automatischer Dissoziation","Operkulumsyndrom, anteriores bilaterales"],"definition":"Das Foix-Chavany-Marie-Syndrom (FCMS) ist eine kortiko-subkortikale suprabulbäre oder pseudobulbäre Parese der unteren Hirnnerven und gekennzeichnet durch schwere Dysarthrie und Dysphagie in Verbindung mit beidseitiger zentraler fazio-pharyngo-glosso-mastikatorischer Paralyse, mit ausgeprägter automatisch-willkürlicher Dissoziation, bei der die unwillkürlichen Bewegungen der betroffenen Muskeln erhalten geblieben sind."},"es":{"name":"Síndrome de Foix-Chavany-Marie","synonyms":["Diplejía facio-faringo-glosa con disociación de movimientos automáticos voluntarios","Diplejía facio-faringo-gloso-masticatoria","Síndrome opercular anterior bilateral"],"definition":"Es una parálisis pseudo-bulbar o suprabulbar cortico-subcortical de los nervios craneales inferiores. Está caracterizada por una disartria grave y una disfagia asociada a una parálisis central bilateral facio-faringo-gloso-masticatoria, con una significativa disociación del movimiento automático-voluntario, conservando los movimientos involuntarios de los músculos afectados."},"it":{"name":"Sindrome di Foix-Chavany-Marie","synonyms":["Diplegia facio-faringo-glosso-masticatoria","Sindrome opercolare anteriore bilaterale"]},"nl":{"name":"Syndroom van Foix-Chavany-Marie","synonyms":["Bilateraal anterieur operculair syndroom","Facio-faryngo-glossale diplegie met automatisch-vrijwillige bewegingsdissociatie","Facio-faryngo-glosso-masticatoire diplegie"],"definition":"Een zeldzame cortico-subcorticale suprabulbaire of pseudobulbaire verlamming van onderste hersenzenuwen, gekenmerkt door ernstige dysartrie en dysfagie geassocieerd met bilaterale centrale facio-faryngo-glosso-masticatoire paralyse, met aanzienlijke automatische-vrijwillige dissociatie waarbij onvrijwillige bewegingen van de aangetaste spieren behouden blijven."},"pt":{"name":"Síndrome Foix-Chavany-Marie","definition":"Uma paralisia córtico-subcortical suprabulbar ou pseudobulbar rara dos nervos cranianos inferiores, caracterizada por disartria e disfagia graves associadas a paralisia facio-faringo-glosso-mastigatória central bilateral, com dissociação automática-voluntária proeminente na qual os movimentos involuntários dos músculos afetados estão preservados."},"pl":{"name":"Zespół Foixa, Chavany i Mariego","synonyms":["Porażenie poprzeczne twarzowo-gardłowo-językowo-żuciowe","Zespół obustronnego fałdu kory mózgowej (wieczka)"]},"cs":{"name":"Foixův-Charvanyho-Marieův syndrom","synonyms":["Faciofaryngoglosomastikatorní diplegie","Oboustranný přední operkulární syndrom","Foix-Charvany-Marieův syndrom"]},"uk":{"name":"Синдром Фуа-Шавані-Марі","synonyms":["Двосторонній передній оперкулярний синдром","Лицьово-глотково-фаринго-глоткова диплегія з автоматично-довільною руховою дисоціацією","Фаціо-фаринго-глотково-ковтальна диплегія"],"definition":"A rare cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved."},"zh":{"name":"Foix-Chavany-Marie综合征","synonyms":["面-咽-舌双侧随意运动障碍伴自发性-随意性运动分离"]},"tr":{"name":"Foix-Chavany-Marie sendromu","synonyms":["Bilateral anterior operküler sendrom","Fasiyo-faringo-glosso-mastikatuar dipleji","Otomatik istemli hareket ayrışma ile seyreden fasiyo-faringo-glosso dipleji"]}},"xrefs":[{"source":"ICD-10","code":"G12.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0023171","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537069","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931412","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2351","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083275","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":182086,"name":"Acquired peripheral neuropathy","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":150.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001172","label":"Abnormal thumb morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009800","label":"Maternal diabetes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null}]}}