{"orpha":3011,"name":"Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome"],"definition":"A rare, genetic, syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3011/","orphanet_url":"https://www.orpha.net/en/disease/detail/3011","names":{"fr":{"name":"Syndrome de tétraplégie spastique-déficience intellectuelle-rétinite pigmentaire","synonyms":["Syndrome de quadriplégie-déficience intellectuelle-rétinite pigmentaire"],"definition":"Déficience intellectuelle syndromique rare d'origine génétique caractérisée par l'association d'une quadriparésie spastique non progressive, d'une rétinite pigmentaire, d'une déficience intellectuelle et d'une surdité variable. Aucun cas n'a été décrit dans la littérature depuis 1976."},"de":{"name":"Spastische Tetraplegie-Retinitis pigmentosa-Intelligenzminderung-Syndrom","definition":"Dieses Syndrom ist charakterisiert durch die Assoziation von nicht-progressiver spastischer Quadriparese, Retinitis pigmentosa, Intelligenzminderung und variablem Hörverlust. Seit 1976 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de tetraplejía espástica-retinosis pigmentaria-discapacidad intelectual","synonyms":["Síndrome de cuadriplejía espástica-retinosis pigmentaria-discapacidad intelectual"],"definition":"Es un trastorno de discapacidad intelectual sindrómico, de origen genético y poco frecuente, caracterizado por la asociación de tetraparesia espástica no progresiva, retinosis pigmentaria, discapacidad intelectual y sordera de grado variable. No ha habido más casos descritos en la literatura desde 1976."},"it":{"name":"Sindrome tetraplegia spastica-retinite pigmentosa-disabilità intellettiva","synonyms":["Sindrome quadriplegia spastica-retinite pigmentosa-deficit cognitivo"],"definition":"Si tratta di una disabilità intellettiva sindromica rara, di origine genetica, caratterizzata da tetraparesi spastica non progressiva, retinite pigmentosa, disabilità intellettiva e sordità di grado variabile. Non sono stati descritti nuovi casi dopo il 1976."},"nl":{"name":"Spastische tetraplegie - retinitis pigmentosa - intellectuele achterstand-syndroom","synonyms":["Spastische quadriplegie - retinitis pigmentosa - intellectuele achterstand-syndroom"],"definition":"Een zeldzame, genetische, syndromale intellectuele achterstand gekarakteriseerd door de associatie van niet-progressieve spastische quadriparese, retinitis pigmentosa, intellectuele achterstand, en variabele doofheid. Sinds 1976 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de tetraplegia espástica-retinite pigmentosa-perturbação do desenvolvimento intelectual","synonyms":["Síndrome de quadriplegia espástica-retinite pigmentosa-perturbação do desenvolvimento intelectual"]},"pl":{"name":"Tetraplegia spastyczna - zwyrodnienie barwnikowe siatkówki - niepełnosprawność intelektualna","synonyms":["Kwadriplegia spastyczna -zwyrodnienie barwnikowe siatkówki - niepełnosprawność intelektualna"]},"cs":{"name":"Syndrom zahrnující spastickou tetraplegii, retinitis pigmentosa a mentální retardaci","synonyms":["Syndrom zahrnující spastickou kvadruplegii, retinitis pigmentosa a mentální retardaci"]},"uk":{"name":"Синдром спастичної тетраплегії - пігментної дегенерації сітківки - інтелектуальної недостатності","synonyms":["Синдром спастичної квадриплегії - пігментного ретиніту - інтелектуальної недостатності"],"definition":"A rare, genetic, syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976."},"zh":{"name":"痉挛性四肢麻痹-色素性视网膜炎-智力障碍综合征","synonyms":["痉挛性四肢瘫-色素性视网膜炎-智力障碍综合征"]},"tr":{"name":"Spastik tetrapleji-retinitis pigmentosa-zihinsel yetersizlik sendromu","synonyms":["Spastik kuadripleji-retinitis pigmentosa-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"270950","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010051","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4509974","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4932","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"1271602[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1271602[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-29","source":"1271602[PMID]","terms":[{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008610","label":"Infantile sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002187","label":"Intellectual disability, profound","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001141","label":"Severely reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null}]}}