{"orpha":97249,"name":"Pontocerebellar hypoplasia type 3","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Cerebellar atrophy with progressive microcephaly","PCH3"],"definition":"A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and pontocerebellar hypoplasia with pons and cerebellum equally affected and that clinically manifests with neonatal hypotonia and impaired swallowing followed by seizures, optic atrophy and short stature from infancy onward. Movement disorders, as seen in other forms of PCH, are absent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97249/","orphanet_url":"https://www.orpha.net/en/disease/detail/97249","names":{"fr":{"name":"Hypoplasie pontocérébelleuse type 3","synonyms":["Atrophie du cervelet avec microcéphalie progressive","HPC3","PCH3"],"definition":"Forme rare d'hypoplasie pontocérébelleuse (HPC) d'origine génétique caractérisée par une hypoplasie néocorticale et pontocérébelleuse avec atteinte du pont de Varole et du cervelet, se manifestant sur le plan clinique par une hypotonie néonatale et des troubles de la déglutition, suivis de crises d'épilepsie, d'une atrophie optique et d'une petite taille qui s'observe dès la petite enfance. Les mouvements anormaux observés dans d'autres formes d'HPC sont ici absents."},"de":{"name":"Pontozerebelläre Hypoplasie Typ 3","synonyms":["Kleinhirnatrophie mit progressiver Mikrozephalie","PCH3"],"definition":"Eine genetisch bedingte Form der pontozerebellären Hypoplasie (PCH), die durch eine neokortikale und pontozerebelläre Hypoplasie gekennzeichnet ist, wobei Pons und Kleinhirn gleichermaßen betroffen sind, und die sich klinisch durch neonatale Hypotonie und Schluckstörungen, gefolgt von Krampfanfällen, Optikusatrophie und Kleinwuchs ab dem Säuglingsalter manifestiert. Bewegungsstörungen, wie sie bei anderen PCH-Formen auftreten, sind nicht vorhanden."},"es":{"name":"Hipoplasia pontocerebelosa tipo 3","synonyms":["Atrofia cerebelosa con microcefalia progresiva","HPC3"],"definition":"Es una forma poco frecuente de hipoplasia pontocerebelosa (HPC) de origen genético caracterizada por hipoplasia neocortical y pontocerebelosa con afectación del tronco cerebral y del cerebelo por igual. Clínicamente, el trastorno se manifiesta con hipotonía neonatal y trastornos de la deglución seguidos de crisis, atrofia óptica y talla baja de inicio en el periodo de lactancia. Los trastornos del movimiento, al igual que en otras formas de HCP, están ausentes."},"it":{"name":"Ipoplasia pontocerebellare, tipo 3","synonyms":["Atrofia cerebellare con microcefalia progressiva","PCH3"],"definition":"L'ipoplasia pontocerebellare tipo 3 (PCH3) è forma genetica rara di ipoplasia pontocerebellare (PCH), caratterizzata da ipoplasia neocorticale e pontocerebellare con interessamento del ponte e del cervelletto, che si manifesta dal punto di vista clinico con ipotonia neonatale e compromissione della deglutizione, seguite da crisi epilettiche, atrofia ottica e bassa statura a partire dalla prima infanzia. Non si associa ai disturbi del movimento riscontrati nelle altre forme di PCH."},"nl":{"name":"Pontocerebellaire hypoplasie type 3","synonyms":["Cerebellaire atrofie met progressieve microcefalie","PCH3"],"definition":"Een zeldzame, genetische vorm van pontocerebellaire hypoplasie (PCH), gekenmerkt door neocorticale en pontocerebellaire hypoplasie die pons en cerebellum in gelijke mate aantast, en die zich klinisch manifesteert met neonatale hypotonie en slikproblemen, gevolgd door insulten, opticusatrofie, en kleine gestalte vanaf de zuigelingentijd. Bewegingsstoornissen, die worden waargenomen bij andere vormen van PCH, zijn afwezig."},"pt":{"name":"Hipoplasia pontocerebelosa tipo 3","synonyms":["Microcefalia progressiva com atrofia cerebelosa"]},"pl":{"name":"Hipoplazja mostowo-móżdżkowa typu 3","synonyms":["Hipoplazja mostowo-móżdżkowa bez dyskinezji","Zanik móżdżku z postępującym małogłowiem","Hipoplazja mostowo-móżdżkowa z zanikiem nerwu wzrokowego"]},"cs":{"name":"Pontocerebelární hypoplázie, typ 3","synonyms":["CLAM","PCH s atrofií optiku","PCH bez dyskineze","PCH3","Mozečková atrofie s progresivní mikrocefalií"]},"uk":{"name":"Гіпоплазія мозочка, тип 3","synonyms":["Атрофія мозочка з прогресуючою мікроцефалією","PCH3"],"definition":"A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and pontocerebellar hypoplasia with pons and cerebellum equally affected and that clinically manifests with neonatal hypotonia and impaired swallowing followed by seizures, optic atrophy and short stature from infancy onward. Movement disorders, as seen in other forms of PCH, are absent."},"zh":{"name":"脑桥小脑发育不全症3型","synonyms":["小脑萎缩伴进行性小头畸形"],"definition":"桥小脑发育不良3型(PCH3)，又称小脑萎缩伴进行性小头畸形(CLAM)，是一种罕见的桥小脑发育不良(见该词条)，呈常染色体隐性遗传，其特征为新生儿肌张力低下和吞咽障碍，从婴儿期开始就有癫痫发作、视神经萎缩和身材矮小等症状，但以上没有一种临床表现是PCH3的特异表型。"},"tr":{"name":"Pontoserebellar hipoplazi tip 3","synonyms":["CLAM","PCH3","Optik atrofi ile seyreden PCH","Diskinezi ile seyretmeyen PCH","İlerleyici mikrosefali ile seyreden serebellar atrofi"]}},"xrefs":[{"source":"OMIM","code":"608027","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":"378477807"},{"source":"MONDO","code":"0011948","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C548072","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1842687","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10708","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98523,"name":"Pontocerebellar hypoplasia","classifications":[147,156,181]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"PCLO","name":"piccolo presynaptic cytomatrix protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25832664[PMID]","hgnc":"13406","ensembl":"ENSG00000186472","omim":"604918","loci":["7q21.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":3.0,"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"}],"phenotypes":null}