{"orpha":613274,"name":"Pontocerebellar hypoplasia type 14","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PCH14"],"definition":"A form of pontocerebellar hypoplasia characterized by severe, progressive microcephaly and severe global developmental delay apparent from birth, severe intellectual disability with lack of social interactions and absence of speech, and pontocerebellar hypoplasia and complete or partial agenesis of the corpus callosum on brain imaging. In addition, affected individuals often present hypotonia, spastic tetraplegia, and early-onset seizures. Chronic anemia and thrombocytopenia have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-613274/","orphanet_url":"https://www.orpha.net/en/disease/detail/613274","names":{"fr":{"name":"Hypoplasie pontocérébelleuse type 14","synonyms":["HPC14","PCH14"],"definition":"Forme d'hypoplasie pontocérébelleuse caractérisée par une microcéphalie sévère progressive et un retard de développement global sévère dès la naissance, une déficience intellectuelle sévère avec absence d'interactions sociales et de parole, ainsi que par une hypoplasie pontocérébelleuse et une agénésie complète ou partielle du corps calleux à l'imagerie cérébrale. Par ailleurs, les patients présentent souvent une hypotonie, une tétraplégie spastique et des convulsions à début précoce. Des cas d'anémie chronique et de thrombocytopénie ont également été rapportés."},"de":{"name":"Pontozerebelläre Hypoplasie Typ 14","synonyms":["PCH14"],"definition":"Eine Form der pontozerebellären Hypoplasie, die durch schwere, fortschreitende Mikrozephalie und schwere globale Entwicklungsverzögerung, die von Geburt an erkennbar ist, schwere Intelligenzminderung mit fehlenden sozialen Interaktionen und fehlender Sprache sowie pontozerebelläre Hypoplasie und vollständige oder teilweise Agenesie des Corpus callosum in der Bildgebung des Gehirns gekennzeichnet ist. Darüber hinaus weisen Betroffene häufig Hypotonie, spastische Tetraplegie und früh einsetzende Anfälle auf. Auch chronische Anämie und Thrombozytopenie wurden berichtet."},"es":{"name":"Hipoplasia pontocerebelosa tipo 14","synonyms":["PCH14","HPC14"],"definition":"Es una forma de hipoplasia pontocerebelosa caracterizada por microcefalia grave y progresiva y un retraso grave del desarrollo global evidente desde el nacimiento, discapacidad intelectual grave con falta de interacciones sociales y ausencia del habla, e hipoplasia pontocerebelosa y agenesia completa o parcial del cuerpo calloso en las neuroimágenes. Además, los pacientes suelen presentar hipotonía, tetraplejía espástica y crisis epilépticas de inicio precoz. También se ha descrito anemia crónica y trombocitopenia."},"it":{"name":"Ipoplasia pontocerebellare tipo 14","synonyms":["PCH14"]},"nl":{"name":"Pontocerebellaire hypoplasie type 14","synonyms":["PCH14"],"definition":"Een vorm van pontocerebellaire hypoplasie, gekenmerkt door ernstige, progressieve microcefalie en ernstige algehele ontwikkelingsachterstand merkbaar vanaf de geboorte, ernstige intellectuele achterstand met gebrek aan sociale interacties en afwezigheid van spraak, en pontocerebellaire hypoplasie en volledige of gedeeltelijke agenesie van corpus callosum bij beeldvorming van hersenen. Daarenboven vertonen getroffen individuen vaak hypotonie, spastische tetraplegie, en vroeg optredende insulten. Chronische anemie en trombocytopenie werden ook reeds gerapporteerd."},"pt":{"name":"Hipoplasia pontocerebelosa tipo 14","synonyms":["PCH14"],"definition":"Forma de hipoplasia ponto-cerebelosa caracterizada por microcefalia grave e progressiva e atraso global do desenvolvimento grave e aparente desde o nascimento, perturbação do desenvolvimento intelectual grave com ausência de interações sociais e de linguagem e hipoplasia ponto-cerebelosa e agenesia completa ou parcial do corpo caloso na imagem cerebral. Além disso, os indivíduos afetados apresentam frequentemente hipotonia, tetraplegia espástica e convulsões de início precoce. Também foram reportadas anemia crónica e trombocitopenia."},"pl":{"name":"Hipoplazja mostowo-móżdżkowa typu 14","synonyms":["PCH14"],"definition":"Postać hipoplazji mostowo-móżdżkowej charakteryzująca się ciężkim, postępującą małogłowiem i poważnym globalnym opóźnieniem rozwoju stwierdzanym od urodzenia, poważną niepełnosprawnością intelektualną z brakiem interakcji społecznych i rozwoju mowy, hipoplazją mostowo-móżdżkową i całkowitą lub częściową agenezją ciała modzelowatego w badaniach obrazowych mózgu. Ponadto często występuje hipotonia, czterokończynowe porażenie spastyczne oraz drgawki o wczesnym początku. Zgłaszano także przewlekłą niedokrwistość i trombocytopenię."},"cs":{"name":"Pontocerebelární hypoplázie, typ 14","synonyms":["PCH14"]},"uk":{"name":"Гіпоплазія мозочка, тип 14","synonyms":["PCH14"],"definition":"A form of pontocerebellar hypoplasia characterized by severe, progressive microcephaly and severe global developmental delay apparent from birth, severe intellectual disability with lack of social interactions and absence of speech, and pontocerebellar hypoplasia and complete or partial agenesis of the corpus callosum on brain imaging. In addition, affected individuals often present hypotonia, spastic tetraplegia, and early-onset seizures. Chronic anemia and thrombocytopenia have also been reported."}},"xrefs":[{"source":"OMIM","code":"619301","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.01","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0030258","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5543322","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":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"area":"Worldwide","status":"Validated","source":"33220177[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"33220177[PMID]_ORPHANET"}],"phenotypes":null}