{"orpha":2715,"name":"Severe oculo-renal-cerebellar syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Hunter-Jurenka-Thompson syndrome","ORC syndrome","Oculorenocerebellar syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2715/","orphanet_url":"https://www.orpha.net/en/disease/detail/2715","names":{"fr":{"name":"Syndrome oculo-rénal-cérébelleux sévère","synonyms":["Syndrome ORC","Syndrome de Hunter-Jurenka-Thompson","Syndrome oculo-réno-cérébelleux"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare, caractérisé par une déficience intellectuelle profonde, une choréoathétose, une diplégie spastique progressive, une dégénérescence tapétorétinienne progressive avec perte des vaisseaux rétiniens et une glomérulopathie entraînant le décès à la fin de la première ou au début de la deuxième décennie de vie. L'absence de la couche granulaire cérébelleuse a été rapportée. Aucun cas n'a été décrit dans la littérature depuis 1982."},"de":{"name":"Okulo-reno-zerebelläres Syndrom, schweres","synonyms":["Hunter-Jurenka-Thompson-Syndrom","ORC-Syndrom","Okulo-reno-zerebelläres Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch eine tiefgreifende intellektuelle Beeinträchtigung, Choreoathetose, fortschreitende spastische Diplegie, fortschreitende tapetoretinale Degeneration mit Verlust der Netzhautgefäße und Glomerulopathie gekennzeichnet ist, die spät im ersten oder früh im zweiten Lebensjahrzehnt zum Tod führt. Es wurde über das Fehlen der zerebellären Granularschicht berichtet. Seit 1982 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome óculo-reno-cerebeloso grave","synonyms":["Síndrome ORC","Síndrome de Hunter-Jurenka-Thompson","Síndrome oculorrenocerebeloso"],"definition":"Es un síndrome dismórfico/con anomalías congénitas múltiples poco frecuente que se caracteriza por una profunda discapacidad intelectual, coreoatetosis, diplejía espástica progresiva, degeneración tapetorretiniana progresiva con pérdida de vasos retinianos y glomerulopatía que ocasiona el fallecimiento al final de la primera o al principio de la segunda década de vida. Se ha descrito la ausencia de la capa granular de la corteza cerebelosa. No ha habido más descripciones en la literatura desde 1982."},"it":{"name":"Sindrome oculo-reno-cerebellare grave","synonyms":["Sindrome di Hunter-Jurenka-Thompson"],"definition":"Si tratta di una malattia rara da anomalie/dismorfismi congeniti multipli, caratterizzata da disabilità intellettiva grave, coreoatetosi, diplegia spastica progressiva, degenerazione tapeto-retinica progressiva con perdita dei vasi della retina, e glomerulopatia che causa la morte alla fine della prima o all'inizio della seconda decade di vita. Può associarsi all'assenza dello strato granulare cerebellare. Non sono stati descritti nuovi casi dopo il 1982."},"nl":{"name":"Ernstig oculo-reno-cerebellair syndroom","synonyms":["ORC-syndroom","Oculorenocerebellair syndroom","Syndroom van Hunter-Jurenka-Thompson"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door zeer ernstige intellectuele achterstand, choreoathetose, progressieve spastische diplegie, progressieve tapetoretinale degeneratie met verlies van bloedvaten van netvlies, en glomerulopathie die resulteert in sterfte op het einde van het eerste of in het begin van het tweede levensdecennium. Afwezigheid van de granulaire laag van cerebellum werd ook reeds gerapporteerd. Sinds 1982 zijn er geen verdere beschrijvingen te vinden in de literatuur."},"pt":{"name":"Síndrome oculo-reno-cerebeloso grave","synonyms":["Síndrome Hunter-Jurenka-Thompson"]},"pl":{"name":"Zespół oczno-nerkowo-móżdżkowy","synonyms":["Zespół Huntera, Jurenka i Thompson"]},"cs":{"name":"Vážný okulorenocerebelární syndrom","synonyms":["Hunterův-Jurenkův-Thompsonův syndrom","Hunter-Jurenka-Thompsonův syndrom"]},"uk":{"name":"Тяжкий окулонирковомозочковий синдром","synonyms":["Синдром Хантера-Юренка-Томпсона","Окулоретикулоцеребеллярний синдром","Синдром ORC"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982."},"zh":{"name":"重症眼-肾-小脑综合征","synonyms":["Hunter-Jurenka-Thompson综合征"]},"tr":{"name":"Ağır okülo-renal-serebellar sendromu","synonyms":["ORC sendromu","Okülorenoserebellar sendrom","Hunter-Jurenka-Thompson sendromu"]}},"xrefs":[{"source":"OMIM","code":"257970","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MeSH","code":"C537739","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850331","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4050","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":567562,"name":"Disorder with multisystemic involvement and glomerulopathy","classifications":[156,188,233]},{"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":716459,"name":"Rare disorder with progressive retinal vasculopathy as a major feature","classifications":[189]},{"orpha":717348,"name":"Rare genetic disorder with progressive retinal vasculopathy as a major feature","classifications":[156]},{"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"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"7091183[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7091183[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008046","label":"Abnormal retinal vascular morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100820","label":"Glomerulopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002187","label":"Intellectual disability, profound","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010620","label":"Malar prominence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001264","label":"Spastic diplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009748","label":"Large earlobe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null}]}}