{"orpha":397715,"name":"Joubert syndrome with Jeune asphyxiating thoracic dystrophy","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["JBTS with JATD","Joubert syndrome with JATD"],"definition":"A rare genetic developmental defect during embryogenesis characterized by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-397715/","orphanet_url":"https://www.orpha.net/en/disease/detail/397715","names":{"fr":{"name":"Syndrome de Joubert avec dystrophie thoracique asphyxiante de Jeune","synonyms":["JBTS avec JATD","Syndrome de Joubert avec JATD"],"definition":"Anomalie rare du développement génétique au cours de l'embryogenèse, caractérisée par des signes classiques du syndrome de Joubert (malformations congénitales du mésencéphale et du rhombencéphale à l'origine d'une hypotonie, des mouvements respiratoires et oculaires anormaux, une ataxie et des troubles cognitifs) associée à des malformations squelettiques caractéristiques du syndrome de Jeune aussi appelé dysplasie thoracique asphyxiante (des côtes courtes, un thorax long et étroit entraînant une insuffisance respiratoire, des membres courts, une petite taille et une polydactylie). Les autres signes cliniques variables sont des reins kystiques, une fibrose hépatique et une dystrophie rétinienne."},"de":{"name":"Joubert-Syndrom mit Jeune asphyxierender Thoraxdystrophie","synonyms":["JBTS mit JATD","Joubert-Syndrom mit JATD"],"definition":"Ein seltener genetischer Entwicklungsdefekt während der Embryogenese, der durch die Assoziation der klassischen Merkmale des Joubert-Syndroms (kongenitale Fehlbildungen des Mittelhirns und des Hinterhirns, die Hypotonie, abnorme Atem- und Augenbewegungen, Ataxie und kognitive Beeinträchtigung verursachen) mit den Skelettanomalien der Jeune-Asphyxie-Thoraxdystrophie (kurze Rippen, langer und schmaler Thorax, der zu Atemversagen führt, kurze Gliedmaßen, Kleinwuchs und Polydaktylie) gekennzeichnet ist. Weitere variable Erscheinungsformen sind Zystennieren, Leberfibrose und Netzhautdystrophie."},"es":{"name":"Síndrome de Joubert con distrofia torácica asfixiante de Jeune","synonyms":["JBTS con JATD","Síndrome de Joubert con JATD"],"definition":"Es un defecto del desarrollo embrionario, de origen genético y poco frecuente, caracterizado por la asociación de las manifestaciones clásicas del síndrome de Joubert (malformaciones congénitas rombomesencefálicas que producen hipotonía, movimientos oculares y respiración anómalos, ataxia y deterioro cognitivo) junto con las anomalías esqueléticas de la distrofia torácica asfixiante de Jeune (costillas cortas, tórax largo y estrecho que provocan insuficiencia respiratoria, extremidades cortas, talla baja y polidactilia). Otras manifestaciones variables adicionales incluyen riñones quísticos, fibrosis hepática y distrofia retiniana."},"it":{"name":"Sindrome di Joubert con distrofia toracica asfissiante di Jeune","synonyms":["JBTS con JATD","Sindrome di Joubert con JATD"],"definition":"Si tratta di un difetto genetico raro dello sviluppo dell'embrione, caratterizzato dai segni clinici tipici della sindrome di Joubert (malformazioni congenite del mesenfalo-rombencefalo che causano ipotonia, anomalie della respirazione e dei movimenti oculari, atassia e deficit cognitivo) associati alle anomalie scheletriche caratteristiche della distrofia toracica asfissiante di Jeune (costole corte, torace lungo e stretto che causa l'insufficienza respiratoria, arti corti, bassa statura e polidattilia). Altri segni clinici variabili sono i reni policistici, la fibrosi epatica e la distrofia della retina."},"nl":{"name":"Syndroom van Joubert met asfyxiërende thoracale dystrofie van Jeune","synonyms":["JBTS met JATD","Syndroom van Joubert met JATD"],"definition":"Een zeldzaam, genetisch ontwikkelingsdefect tijdens embryogenese, gekarakteriseerd door de associatie van de klassieke kenmerken van syndroom van Joubert (congenitale malformaties van midden- en achterhersenen die hypotonie, abnormale ademhaling en oogbeweging, ataxie en cognitieve functiestoornis veroorzaken) met de skeletanomalieën van asfyxiërende thoracale dystrofie van Jeune (korte ribben, lange en smalle thorax met respiratoir falen tot gevolg, korte ledematen, kleine gestalte, en polydactylie). Bijkomende variabele manifestaties zijn onder meer cystenieren, leverfibrose, en retinadystrofie."},"pt":{"name":"Síndrome de Joubert com distrofia torácica asfixiante de Jeune"},"pl":{"name":"Zespół Joubert z zaciskającą dystrofią klatki piersiowej Jeune'a","synonyms":["JBTS z JATD","Zespół Joubert z JATD"]},"cs":{"name":"Joubertův syndrom s Jeuneho dystrofií hrudníku vedoucí k asfyxii","synonyms":["JBTS s JATD","Joubertův syndrom s JATD"]},"uk":{"name":"Синдром Жубера з асфіктичною грудною дистрофією Жене","synonyms":["JBTS з JATD","Синдром Жубера з JATD"],"definition":"A rare genetic developmental defect during embryogenesis characterized by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy."},"zh":{"name":"Joubert综合征伴Jeune窒息性胸廓营养不良","synonyms":["Joubert综合征伴JATD"],"definition":"本病是胚胎发育过程中一种罕见的遗传发育缺陷，其特征为Joubert综合征的典型特征(先天性中脑-后脑畸形所致肌张力低下、呼吸和眼球运动异常、共济失调和认知障碍)伴有Jeune窒息性胸廓营养不良的骨骼异常(短肋骨、胸廓狭长所致呼吸衰竭、四肢短小、身材矮小和多指畸形)。其他可变症状包括囊性肾、肝纤维化和视网膜营养不良。"},"tr":{"name":"Jeune boğucu torasik distrofi ile seyreden Joubert sendromu","synonyms":["JATD ile seyreden JBTS","JATD ile seyreden Joubert sendromu"]}},"xrefs":[{"source":"OMIM","code":"615636","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616546","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018342","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518774","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":140874,"name":"Joubert syndrome","classifications":[147,156,181,189]},{"orpha":1505,"name":"Short rib-polydactyly syndrome","classifications":[147,156,184,199]}],"children":[],"genes":[{"symbol":"CSPP1","name":"centrosome and spindle pole associated protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24360808[PMID]","hgnc":"26193","ensembl":"ENSG00000104218","omim":"611654","loci":["8q13.1-q13.2"]},{"symbol":"KIAA0586","name":"KIAA0586","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26386044[PMID]","hgnc":"19960","ensembl":"ENSG00000100578","omim":"610178","loci":["14q23.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"24360808[PMID]_20503315[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24360808[PMID]_20503315[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-28","source":"20503315[PMID]","terms":[{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011933","label":"Elongated superior cerebellar peduncle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004719","label":"Hyperechogenic kidneys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002419","label":"Molar tooth sign on MRI","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002789","label":"Tachypnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002134","label":"Abnormal basal ganglia morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010013","label":"Abnormality of the 5th metacarpal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003170","label":"Abnormality of the acetabulum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012795","label":"Abnormality of the optic disc","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001331","label":"Absent septum pellucidum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006711","label":"Aplasia/Hypoplasia involving bones of the thorax","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001591","label":"Bell-shaped thorax","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008445","label":"Cervical spinal canal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006528","label":"Chronic lung disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030048","label":"Colpocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010579","label":"Cone-shaped epiphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007082","label":"Dilated third ventricle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009921","label":"Duane anomaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002195","label":"Dysgenesis of the cerebellar vermis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008797","label":"Early ossification of capital femoral epiphyses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002280","label":"Enlarged cisterna magna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006956","label":"Lateral ventricle dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000890","label":"Long clavicles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002435","label":"Meningocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002085","label":"Occipital encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100954","label":"Open operculum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000396","label":"Overfolded helix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100259","label":"Postaxial polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003411","label":"Proximal femoral metaphyseal irregularity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002100","label":"Recurrent aspiration pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005989","label":"Redundant neck skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000803","label":"Renal cortical cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000556","label":"Retinal dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004991","label":"Rhizomelic arm shortening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012106","label":"Rhizomelic leg shortening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011927","label":"Short digit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000773","label":"Short ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004629","label":"Small cervical vertebral bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031528","label":"Subretinal deposits","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002558","label":"Supernumerary nipple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005257","label":"Thoracic hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006668","label":"Twelfth rib hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Occasional (29-5%)","criteria":null}]}}