{"orpha":1313,"name":"Infantile choroidocerebral calcification syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare syndromic intellectual disability characterized by severe intellectual disability and calcification of the choroid plexus, associated with elevated cerebrospinal fluid protein concentration. Additional signs and symptoms include strabismus, increased deep tendon reflexes, and foot deformities, among others. There have been no further descriptions in the literature since 1993.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1313/","orphanet_url":"https://www.orpha.net/en/disease/detail/1313","names":{"fr":{"name":"Calcifications du plexus choroïde, forme infantile","definition":"Forme rare de déficience intellectuelle syndromique caractérisée par une déficience intellectuelle sévère et une calcification du plexus choroïde, associées à une concentration élevée de protéines du liquide céphalorachidien. Parmi les autres signes et symptômes, on retrouve le strabisme, l'augmentation des réflexes ostéotendineux profonds ainsi que des déformations du pied. Aucun cas n'a été décrit dans la littérature depuis 1993."},"de":{"name":"Infantile Plexus choroideus-Kalzifikation-Syndrom","definition":"Eine seltene syndromale Form der Intelligenzminderung, die durch eine schwere intellektuelle Beeinträchtigung und eine Verkalkung des Plexus choroideus gekennzeichnet ist und mit einer erhöhten Proteinkonzentration im Liquor einhergeht. Weitere Anzeichen und Symptome sind u. a. Strabismus, erhöhte tiefe Sehnenreflexe und Fußdeformitäten. Seit 1993 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de calcificación del plexo coroideo infantil","definition":"Es una discapacidad intelectual sindrómica poco frecuente caracterizada por discapacidad intelectual grave y calcificación del plexo coroideo, asociada a una concentración elevada de proteínas en el líquido cefalorraquídeo. Los signos y síntomas adicionales incluyen estrabismo, aumento de los reflejos tendinosos profundos y deformidades del pie, entre otros. No ha habido más descripciones en la literatura desde 1993."},"it":{"name":"Sindrome da calcificazione infantile coroidea-cerebrale","definition":"Si tratta di una disabilità intellettiva sindromica rara, caratterizzata dalla disabilità intellettiva grave e dalla calcificazione del plesso coroideo, associate ad elevate concentrazioni proteiche nel liquido cefalorachidiano. Altri segni clinici comprendono lo strabismo, l'aumento dei riflessi tendinei profondi e le deformità dei piedi. Non sono stati descritti nuovi casi dopo il 1993."},"nl":{"name":"Infantiel choroïdo-cerebrale calcificatie-syndroom","definition":"Een zeldzame syndromale intellectuele achterstand, gekarakteriseerd door ernstige intellectuele beperking en calcificatie van plexus choroideus, geassocieerd met verhoogde concentratie van proteïne in cerebrospinaal vocht. Bijkomende verschijnselen en symptomen zijn onder meer strabisme, verhoogde diepe peesreflexen, en voetmisvormingen. Sinds 1993 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de calcificações coroido-cerebrais forma infantil"},"pl":{"name":"Dziecięcy zespół zwapnienia błony naczyniowej i mózgu"},"cs":{"name":"Syndrom infantilní choroidocerebrální kalcifikace"},"uk":{"name":"Синдром дитячого хоріоїдоцеребрального кальцинозу","definition":"A rare syndromic intellectual disability characterized by severe intellectual disability and calcification of the choroid plexus, associated with elevated cerebrospinal fluid protein concentration. Additional signs and symptoms include strabismus, increased deep tendon reflexes, and foot deformities, among others. There have been no further descriptions in the literature since 1993."},"zh":{"name":"婴儿脉络膜脑钙化综合征"},"tr":{"name":"İnfantil koroidoserebral kalsifikasyon sendromu"}},"xrefs":[{"source":"OMIM","code":"215480","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G93.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008981","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535357","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859092","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1313","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"315525[PMID]_8232964[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_315525[PMID]_8232964[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null}]}}