{"orpha":397951,"name":"Microcephaly-thin corpus callosum-intellectual disability syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-397951/","orphanet_url":"https://www.orpha.net/en/disease/detail/397951","names":{"fr":{"name":"Syndrome de microcéphalie-corps calleux fin-déficience intellectuelle","definition":"Un trouble génétique rare de déficit intellectuel syndromique, caractérisé par une microcéphalie post-natale progressive et un retard du développement global, un déficit intellectuel modéré à profond, des difficultés ou une incapacité à marcher, des signes pyramidaux (incluant une spasticité, une hyperréflexie et une réponse plantaire en extension) et un corps calleux fin révélé à l'imagerie cérébrale. Des signes ophtalmologiques (dont un nystagmus, un strabisme et une pigmentation rétinienne anormale) peuvent aussi être associées, ainsi qu'une déformation des pieds et des anomalies génitales."},"de":{"name":"Mikrozephalie-dünnes Corpus callosum-Intelligenzminderung-Syndrom"},"es":{"name":"Síndrome de microcefalia-adelgazamiento del cuerpo calloso-discapacidad intelectual","definition":"Es una enfermedad sindrómica genética poco frecuente, caracterizada por microcefalia postnatal progresiva y retraso global del desarrollo, así como discapacidad intelectual de moderada a profunda, dificultad o incapacidad para deambular, signos piramidales (que incluyen espasticidad, hiperreflexia y respuesta plantar extensora) y cuerpo calloso delgado patente en estudios por neuroimagen. También se pueden asociar signos oftalmológicos (como nistagmus, estrabismo y pigmentación anormal de la retina), malformación del pie y anomalías genitales."},"it":{"name":"Sindrome microcefalia-corpo calloso sottile-disabilità intellettiva","definition":"La sindrome che associa microcefalia, corpo calloso sottile e disabilità intellettiva è una malattia genetica rara da disabilità intellettiva sindromica, caratterizzata da microcefalia postnatale progressiva, ritardo dello sviluppo globale, disabilità intellettiva moderata o grave, difficoltà o incapacità di deambulare, segni piramidali (spasticità, iperreflessia, e risposte plantari in estensione) e assottigliamento del corpo calloso, sulle neuroimmagini. Possono associarsi segni oculari (nistagmo, strabismo e anomalie della pigmentazione della retina), deformità dei piedi e anomalie dei genitali."},"nl":{"name":"Microcefalie - dun corpus callosum - intellectuele achterstand-syndroom","definition":"Een zeldzame, genetische syndromale intellectuele stoornis, gekarakteriseerd door progressieve postnatale microcefalie en algehele ontwikkelingsachterstand, alsook matige tot ernstige intellectuele achterstand, moeilijkheden met of onvermogen om te stappen, piramidale tekenen (waaronder spasticiteit, hyperreflexie en pathologische voetzoolreflexen), en een dun corpus callosum aangetoond met beeldvorming van de hersenen. Oftalmologische tekenen (waaronder nystagmus, strabisme en abnormale pigmentatie van netvlies), voetmisvorming en genitale anomalieën kunnen ook geassocieerd zijn."},"pt":{"name":"Síndrome de microcefalia-corpo caloso estreito-perturbação do desenvolvimento intelectual"},"pl":{"name":"Zespół małogłowie-ścieńczenie ciała modzelowatego-niepełnosprawność intelektualna","definition":"*Zespół małogłowie-ścieńczenie ciała modzelowatego-niepełnosprawność intelektualna jest rzadkim, genetycznie uwarunkowanym zespołem z niepełnosprawnością intelektualną, który charakteryzuje się postępującym w okresie postnatalnym małogłowiem i całościowym opóźnieniem rozwoju, a także umiarkowaną lub głęboką niepełnosprawnością intelektualną, zaburzeniami chodu lub niezdolnością do chodzenia, objawami piramidowymi (spastyczność, wygórowane odruchy i objaw Babińskiego) oraz ścieńczonym ciałem modzelowatym w badaniach obrazowych mózgu. Mogą towarzyszyć objawy oczne (oczopląs, zez i nieprawidłowa pigmentacja siatkówki), deformacje stóp i wady narządów płciowych.inf brsup"},"cs":{"name":"Syndrom zahrnující mikrocefalii, tenké corpus callosum a mentální retardaci"},"uk":{"name":"Синдром мікроцефалії-тонкого мозолистого тіла-інтелектуальної недостатності","definition":"A rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated."},"zh":{"name":"小头薄胼胝体智力障碍综合征","definition":"本病是一种罕见的遗传性综合征性智力障碍疾病，其特征为进行性出生后小头畸形和全面发育迟缓，以及中至极深度智力障碍、行走困难或不能、锥体束征(包括痉挛、反射亢进和足底伸肌反应)和大脑成像显示的胼胝体薄。眼部体征(包括眼球震颤、斜视和异常视网膜色素沉着)、足部畸形和生殖器异常也可能与本病有关。"},"tr":{"name":"Mikrosefali-ince korpus kallozum-zihinsel yetersizlik sendromu"}},"xrefs":[{"source":"OMIM","code":"615599","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014273","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749429","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"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]}],"children":[],"genes":[{"symbol":"TAF2","name":"TATA-box binding protein associated factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24084144[PMID]","hgnc":"11536","ensembl":"ENSG00000064313","omim":"604912","loci":["8q24.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"24084144[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24084144[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-03","source":"24084144[PMID]_22633631[PMID]_21937992[PMID]","terms":[{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005484","label":"Secondary microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000577","label":"Exotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000666","label":"Horizontal nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null}]}}