{"orpha":475,"name":"Isolated Joubert syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CPD IV","Cerebelloparenchymal disorder IV","Classic Joubert syndrome","Joubert syndrome type A","Joubert-Boltshauser syndrome","Pure Joubert syndrome"],"definition":"A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-475/","orphanet_url":"https://www.orpha.net/en/disease/detail/475","names":{"fr":{"name":"Syndrome de Joubert isolé","synonyms":["Syndrome de Joubert classique","Syndrome de Joubert pur","Syndrome de Joubert type A","Syndrome de Joubert-Boltshauser"],"definition":"Ataxie cérébelleuse congénitale autosomique récessive caractérisée par une malformation congénitale du tronc cérébral et une agénésie ou une hypoplasie du vermis cérébelleux entraînant des troubles respiratoires, un nystagmus, une hypotonie, une ataxie et un retard du développement moteur."},"de":{"name":"Joubert-Syndrom, isoliertes","synonyms":["CPD IV","JBTS","Joubert-Boltshauser-Syndrom","Joubert-Syndrom Typ A","Joubert-Syndrom, reines","Klassisches Joubert-Syndrom","Zerebello-parenchymale Krankheit IV"],"definition":"Eine autosomal-rezessive zerebelläre Ataxie, die durch eine angeborene Fehlbildung des Hirnstamms und eine Agenesie oder Hypoplasie des Kleinhirnwurms gekennzeichnet ist und zu einem abnormalen Atemmuster, Nystagmus, Hypotonie, Ataxie und einer Verzögerung beim Erreichen motorischer Meilensteine führt."},"es":{"name":"Síndrome de Joubert aislado","synonyms":["CPD IV","Síndrome de Joubert clásico","Síndrome de Joubert puro","Síndrome de Joubert tipo A","Síndrome de Joubert-Boltshauser","Trastorno cerebeloparenquimatoso IV"],"definition":"Es una ataxia cerebelosa congénita autosómica recesiva poco frecuente caracterizada por una malformación congénita del tronco cerebral y agenesia o hipoplasia del vermis cerebeloso que produce un patrón respiratorio anómalo, nistagmo, hipotonía, ataxia y retraso en la adquisición de los hitos motores."},"it":{"name":"Sindrome di Joubert","synonyms":["CPD IV","Disturbo cerebelloparenchimale IV","Sindrome di Joubert classica","Sindrome di Joubert pura","Sindrome di Joubert, tipo A","Sindrome di Joubert-Boltshauser"],"definition":"La sindrome di Joubert (SJ) è un'atassia cerebellare congenita rara, a trasmissione autosomica recessiva, caratterizzata da una malformazione congenita del tronco encefalico e dall'agenesia o ipoplasia del verme cerebellare, che esita nei difetti della respirazione, nel nistagmo, nell'ipotonia, nell'atassia e nel ritardo dello sviluppo motorio."},"nl":{"name":"Geïsoleerd syndroom van Joubert","synonyms":["CPD IV","Cerebelloparenchymale aandoening IV","Klassiek syndroom van Joubert","Syndroom van Joubert type A","Syndroom van Joubert-Boltshauser","Zuiver syndroom van Joubert"],"definition":"Een zeldzame autosomaal recessieve congenitale cerebellaire ataxie, gekarakteriseerd door congenitale malformatie van hersenstam en agenesie of hypoplasie van cerebellaire vermis, wat leidt tot een abnormaal ademhalingspatroon, nystagmus, hypotonie, ataxie, en vertraagd behalen van motorische mijlpalen."},"pt":{"name":"Síndrome Joubert isolado","synonyms":["CPD IV","Doença cerebeloparenquimatosa IV","Síndrome Joubert clássico","Síndrome Joubert puro","Síndrome Joubert tipo A","Síndrome Joubert-Boltshauser"],"definition":"O síndrome de Joubert (JS) é caracterizado por malformação congénita do tronco cerebral e agenesia ou hipoplasia do vérmis cerebeloso levando a um padrão respiratório anormal, nistagmo, hipotonia, ataxia, e atraso no desenvolvimento motor."},"pl":{"name":"Zespół Joubert","synonyms":["Cerebelloparenchymal disorder IV","CPD IV","Czysty zespół Joubert","Klasyczny zespół Joubert","Zespół Joubert i Boltshausera","Zespół Joubert typu A"]},"cs":{"name":"Joubertův syndrom","synonyms":["CPD IV","Cerebeloparenchymatózní porucha IV","Klasický Joubertův syndrom","Joubertův syndrom, typ A","Joubertův-Bolthauserův syndrom","Čistý Joubertův syndrom","Joubert-Bolthauserův syndrom"]},"uk":{"name":"Синдром Жубера","synonyms":["Церебелопаренхіматозний розлад IV","Класичний синдром Жубера","CPD IV","Синдром Жубера, тип А","Синдром Жубера-Больцгаузера","Чистий синдром Жубера"],"definition":"A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones."},"zh":{"name":"Joubert综合征","synonyms":["小脑实质障碍症IV型"]},"tr":{"name":"Joubert sendromu","synonyms":["CPD IV","Saf Joubert sendromu","Joubert sendromu tip A","Klasik Joubert sendromu","Joubert-Boltshauser sendromu","Serebelloparenkimal bozukluk IV"]}},"xrefs":[{"source":"OMIM","code":"213300","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"300804","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608091","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608629","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609583","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610188","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610688","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611560","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612285","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612291","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614173","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614424","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614464","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614465","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614615","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614815","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614970","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615636","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615665","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616490","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616654","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616781","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616784","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617120","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617121","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617622","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617757","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617761","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617767","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618161","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618763","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619185","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619476","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619562","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619582","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1414756318"},{"source":"MONDO","code":"0018772","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0431399","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6802","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10078574","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare 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coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001696","label":"Situs inversus totalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}