{"orpha":613267,"name":"Pontocerebellar hypoplasia type 13","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PCH13"],"definition":"A form of pontocerebellar hypoplasia characterized by infantile onset of severe global developmental delay with absent speech, hypotonia, feeding problems, dysmorphic craniofacial features, and development of pontocerebellar hypoplasia on brain imaging later in childhood. Other structural abnormalities of the brain, which may already be apparent at an earlier stage, include small hippocampus, thin corpus callosum, periventricular white matter abnormalities, and Dandy-Walker malformation. Seizures, nystagmus, and cortical visual impairment have been reported in some cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-613267/","orphanet_url":"https://www.orpha.net/en/disease/detail/613267","names":{"fr":{"name":"Hypoplasie pontocérébelleuse type 13","synonyms":["HPC13","Hypoplasie pontocérébelleuse associée à VPS51","PCH13"],"definition":"Forme d'hypoplasie pontocérébelleuse caractérisée par l'apparition infantile d'un retard de développement global sévère avec absence de parole, hypotonie, difficultés à s'alimenter, dysmorphie craniofaciale et développement d'une hypoplasie pontocérébelleuse visible à l'imagerie cérébrale plus tard pendant l'enfance. Les autres anomalies structurelles du cerveau, qui peuvent déjà être apparentes à un stade plus précoce, comprennent un hippocampe de petite taille, un corps calleux mince, des anomalies de la substance blanche périventriculaire et une malformation de Dandy-Walker. Des convulsions, un nystagmus et une atteinte visuelle corticale ont été rapportés dans certains cas."},"de":{"name":"Pontozerebelläre Hypoplasie Typ 13","synonyms":["PCH13"],"definition":"Eine Form der pontozerebellären Hypoplasie, die durch eine im Säuglingsalter einsetzende schwere globale Entwicklungsverzögerung mit fehlendem Sprachvermögen, Hypotonie, Fütterungsproblemen, dysmorphen kraniofazialen Merkmalen und der Entwicklung einer pontozerebellären Hypoplasie in der Bildgebung des Gehirns im späteren Kindesalter gekennzeichnet ist. Andere strukturelle Anomalien des Gehirns, die bereits in einem früheren Stadium erkennbar sein können, umfassen einen kleinen Hippocampus, ein dünnes Corpus callosum, periventrikuläre Anomalien der weißen Substanz und Fehlbildungen nach Dandy-Walker. In einigen Fällen wurde über Krampfanfälle, Nystagmus und kortikale Sehstörungen berichtet."},"es":{"name":"Hipoplasia pontocerebelosa tipo 13","synonyms":["HPC13"],"definition":"Es un síndrome dismórfico/de anomalías congénitas múltiples, poco frecuente y de origen genético, caracterizado por un fenotipo variable que incluye macrocefalia, sobrecrecimiento posnatal, osificación carpiana avanzada, obesidad, retraso en el habla, discapacidad intelectual, trastornos del espectro autista y trastornos de conducta con episodios de agresividad y dismorfia facial variable. También se han descrito crisis epilépticas y anomalías estructurales del cerebro, así como una variedad de otras manifestaciones como otitis media recurrente, hipermovilidad de las articulaciones, hirsutismo o nevos."},"it":{"name":"Ipoplasia pontocerebellare tipo 13","synonyms":["PCH13"]},"nl":{"name":"Pontocerebellaire hypoplasie type 13","synonyms":["PCH13"],"definition":"Een vorm van pontocerebellaire hypoplasie, gekenmerkt door infantiele aanvang van ernstige algehele ontwikkelingsachterstand met afwezigheid van spraak, hypotonie, voedingsproblemen, dysmorfe craniofaciale kenmerken, en ontwikkeling van pontocerebellaire hypoplasie merkbaar bij beeldvorming van hersenen later in de kindertijd. Overige structurele afwijkingen van hersenen, die mogelijk reeds in een vroeger stadium merkbaar kunnen zijn, zijn onder meer kleine hippocampus, dun corpus callosum, afwijkingen van periventriculaire witte stof, en Dandy-Walker malformatie. In sommige gevallen werden insulten, nystagmus, en corticale visuele stoornis gerapporteerd."},"pt":{"name":"Hipoplasia pontocerebelosa tipo 13","synonyms":["PCH13"],"definition":"Forma de hipoplasia pontocerebelosa caracterizada por atraso global do desenvolvimento grave e de início na infância precoce, com ausência de linguagem, hipotonia, problemas alimentares, caraterísticas craniofaciais dismórficas e desenvolvimento de hipoplasia pontocerebelar na imagem cerebral mais tarde na infância. Outras anomalias estruturais do cérebro, que podem já ser aparentes numa fase mais precoce, incluem hipocampo pequeno, corpo caloso fino, anomalias da substância branca periventricular e malformação de Dandy-Walker. Nalguns casos, foram reportadas convulsões, nistagmo e deficiência visual cortical."},"pl":{"name":"Hipoplazja mostowo-móżdżkowa typu 13","synonyms":["PCH13"],"definition":"Postać hipoplazji mostowo-móżdżkowej o początku w wieku niemowlęcym, charakteryzująca się ciężkim, globalnym opóźnieniem rozwoju z brakiem mowy, hipotonią, problemami z karmieniem, cechami dysmorfii twarzoczaszki oraz postępującą hipoplazją mostowo-móżdżkową, widoczną w badaniach obrazowych mózgowia w okresie dzieciństwa. Inne nieprawidłowości strukturalne mózgu, które mogą być widoczne już na wcześniejszym etapie choroby, obejmują mały hipokamp, cienkie ciało modzelowate, zaburzenia istoty białej okołokomorowej i malformację Dandy'ego-Walkera. W niektórych przypadkach zgłaszano drgawki, oczopląs i korowe zaburzenia widzenia."},"cs":{"name":"Pontocerebelární hypoplázie, typ 13","synonyms":["PCH13"]},"uk":{"name":"Гіпоплазія мозочка, тип 13","synonyms":["PCH13"],"definition":"A form of pontocerebellar hypoplasia characterized by infantile onset of severe global developmental delay with absent speech, hypotonia, feeding problems, dysmorphic craniofacial features, and development of pontocerebellar hypoplasia on brain imaging later in childhood. Other structural abnormalities of the brain, which may already be apparent at an earlier stage, include small hippocampus, thin corpus callosum, periventricular white matter abnormalities, and Dandy-Walker malformation. Seizures, nystagmus, and cortical visual impairment have been reported in some cases."}},"xrefs":[{"source":"OMIM","code":"618606","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":"attributed","validated":true},{"source":"MONDO","code":"0032831","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5231425","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":98523,"name":"Pontocerebellar hypoplasia","classifications":[147,156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"30624672[PMID]_31207318[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"30624672[PMID]_31207318[PMID]_ORPHANET"}],"phenotypes":null}