{"orpha":166063,"name":"Pontocerebellar hypoplasia type 4","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Fatal infantile encephalopathy with olivopontocerebellar hypoplasia","Olivopontocerebellar hypoplasia","PCH4"],"definition":"A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by delayed neocortical maturation with underdeveloped cerebral hemispheres and pontocerebellar hypoplasia and a severely affected vermis. Clinically, the disorder manifests with prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166063/","orphanet_url":"https://www.orpha.net/en/disease/detail/166063","names":{"fr":{"name":"Hypoplasie pontocérébelleuse type 4","synonyms":["Encéphalopathie fatale infantile avec hypoplasie olivopontocérébelleuse","HPC4","Hypoplasie olivopontocérébelleuse"],"definition":"Forme génétique sévère d'hypoplasie pontocérébelleuse (HPC) caractérisée par un retard de maturation néocorticale, des hémisphères cérébraux sous-développés, une hypoplasie pontocérébelleuse et une atteinte sévère du vermis. Les signes et symptômes cliniques de la maladie sont l'apparition, en période prénatale, d'un polyhydramnios et de contractures suivis d'une hypertonie, d'un clonus sévère, d'une hypoventilation primaire entraînant le décès précoce du nourrisson après la naissance."},"de":{"name":"Pontozerebelläre Hypoplasie Typ 4","synonyms":["Fatale infantile Enzephalopathie mit olivopontozerebellärer Hypoplasie","Olivopontozerebellärer Hypoplasie","PCH4"],"definition":"Eine schwere genetisch bedingte Form der pontozerebellären Hypoplasie (PCH), die durch eine verzögerte Reifung des Neokortex mit unterentwickelten Gehirnhälften und pontozerebellärer Hypoplasie sowie einem stark betroffenen Vermis gekennzeichnet ist. Klinisch manifestiert sich die Erkrankung mit pränatal beginnendem Polyhydramnion und Kontrakturen, gefolgt von Hypertonie, schwerem Klonus und primärer Hypoventilation, was zu einem frühen postnatalen Tod führt."},"es":{"name":"Hipoplasia pontocerebelosa tipo 4","synonyms":["Encefalopatía letal del lactante con hipoplasia olivopontocerebelosa","HPC4","Hipoplasia olivopontocerebelosa"],"definition":"Es una forma genética grave de hipoplasia pontocerebelosa (HPC) caracterizada por un retraso de la maduración neocortical con subdesarrollo de los hemisferios cerebrales e hipoplasia pontocerebelosa y un vermis gravemente afectado. Clínicamente, el trastorno se manifiesta con la aparición prenatal de polihidramnios y contracturas, seguida de hipertonía, clonus grave e hipoventilación primaria que conduce a una muerte postnatal precoz."},"it":{"name":"Ipoplasia pontocerebellare, tipo 4","synonyms":["Encefalopatia infantile fatale con ipoplasia olivo-ponto-cerebellare","Ipoplasia olivo-ponto-cerebellare","PCH4"],"definition":"L'ipoplasia pontocerebellare tipo 4 (PCH4) è una forma genetica grave di ipoplasia pontocerebellare (PCH), caratterizzata da ritardo della maturazione neocorticale con ipoplasia degli emisferi cerebrali, ipoplasia pontocerebellare e grave interessamento del verme. Dal punto di vista clinico, la malattia si manifesta con polidramnios e contratture ad esordio prenatale, seguite da ipertonia, clonie gravi e ipoventilazione primaria che esita nella morte poco dopo la nascita."},"nl":{"name":"Pontocerebellaire hypoplasie type 4","synonyms":["Fatale infantiele encefalopathie met olivopontocerebellaire hypoplasie","Olivopontocerebellaire hypoplasie","PCH4"],"definition":"Een ernstige, genetische vorm van pontocerebellaire hypoplasie (PCH), gekarakteriseerd door vertraagde neocorticale maturatie met onderontwikkelde cerebrale hemisferen en pontocerebellaire hypoplasie en een ernstig aangetaste vermis. Klinisch manifesteert de aandoening zich met prenatale aanvang van polyhydramnion en contracturen gevolgd door hypertonie, ernstige clonus, en primaire hypoventilatie met postnatale sterfte tot gevolg."},"pt":{"name":"Hipoplasia pontocerebelosa tipo 4"},"pl":{"name":"Hipoplazja mostowo-móżdżkowa typu 4","synonyms":["Hipoplazja oliwkowo-mostowo-móżdżkowa","PCH4","Śmiertelna niemowlęca encefalopatia z hipoplazją oliwkowo-mostowo-móżdżkową"]},"cs":{"name":"Pontocerebelární hypoplázie, typ 4","synonyms":["Fatální infantilní encefalopatie s olivopontocerebelární hypoplázií","Olivopontocerebelární hypoplázie","PCH4"]},"uk":{"name":"Понтоцеребеллярна гіпоплазія тип 4","synonyms":["Фатальна дитяча енцефалопатія з гіпоплазією оливопонтоцеребеллярного типу","Оливопонтомозочкова гіпоплазія","PCH4"],"definition":"A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by delayed neocortical maturation with underdeveloped cerebral hemispheres and pontocerebellar hypoplasia and a severely affected vermis. Clinically, the disorder manifests with prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death."},"zh":{"name":"桥脑小脑发育不全4型","synonyms":["致命性婴儿脑病伴橄榄体脑桥小脑发育不良"],"definition":"脑桥小脑发育不全4型(PCH4)是一种非常罕见的PCH(见该词条)，其特征是产前出现羊水过多和挛缩，随后出现肌张力增高、严重阵挛、原发性通气不足而导致早期出生后死亡。"},"tr":{"name":"Pontoserebellar hipoplazi tip 4","synonyms":["PCH4","Olivopontoserebellar hipoplazi","Olivopontoserebellar hipoplazili letal infantil ensefalopati"]}},"xrefs":[{"source":"OMIM","code":"225753","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"447667859"},{"source":"MONDO","code":"0009166","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536716","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856974","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"343","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":166068,"name":"Pontocerebellar hypoplasia type 5","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98523,"name":"Pontocerebellar hypoplasia","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"TSEN54","name":"tRNA splicing endonuclease subunit 54","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"27561","ensembl":"ENSG00000182173","omim":"608755","loci":["17q25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20952379[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-08-01","source":"20952379[PMID]_21824568[PMID]_20301773[PMID]_20956791[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002871","label":"Central apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002365","label":"Hypoplasia of the brainstem","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006955","label":"Olivopontocerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011451","label":"Primary microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004887","label":"Respiratory failure requiring assisted ventilation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Occasional (29-5%)","criteria":null}]}}