{"orpha":3177,"name":"Spinocerebellar degeneration-corneal dystrophy syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Der Kaloustian-Jarudi-Khoury syndrome"],"definition":"A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3177/","orphanet_url":"https://www.orpha.net/en/disease/detail/3177","names":{"fr":{"name":"Syndrome de dégénérescence spinocérébelleuse-dystrophie cornéenne","synonyms":["Syndrome de Der Kaloustian-Jarudi-Khoury"],"definition":"Maladie neurologique rare, d'origine génétique, caractérisée par l'association d'une dégénérescence spinocérébelleuse à progression lente et d'une dystrophie cornéenne, se manifestant par des opacités cornéennes bilatérales (entraînant une déficience visuelle sévère), une déficience intellectuelle légère, une ataxie, des troubles de la marche et des tremblements. Parmi les autres manifestations figurent une dysmorphie faciale (visage triangulaire, ptosis, angulation postérieure et implantation basse des oreilles, micrognathie), ainsi qu'une légère atteinte du motoneurone supérieur avec hypertonie, hyperréflexie des membres inférieurs et un signe de Babinski. Aucun cas n'a été décrit dans la littérature depuis 1985."},"de":{"name":"Spinozerebelläre Degeneration-Hornhautdystrophie-Syndrom","synonyms":["Der Kaloustian-Jarudi-Khoury-Syndrom"],"definition":"Eine seltene, genetisch bedingte, neurologische Erkrankung, die durch die Assoziation von langsam fortschreitender spinozerebellärer Degeneration und Hornhautdystrophie gekennzeichnet ist und sich durch beidseitige Hornhauttrübungen (die zu schweren Sehstörungen führen), leichte Intelligenzminderungen, Ataxie, Gangstörungen und Tremor äußert. Weitere Erscheinungsformen sind Gesichtsdysmorphien (d. h. dreieckiges Gesicht, Ptosis, tief angesetzte, nach hinten abgewinkelte Ohren und Mikrognathie) sowie eine leichte Beteiligung der oberen Motoneuronen mit Hypertonie, Hyperreflexie der unteren Gliedmaßen und extensorischen Plantarreflexen. Seit 1985 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de degeneración espinocerebelosa-distrofia corneal","synonyms":["Síndrome de Der Kaloustian-Jarudi-Khoury"],"definition":"Es un trastorno neurológico de origen genético y poco frecuente, caracterizado por la asociación de degeneración espinocerebelosa lentamente progresiva y distrofia corneal que se manifiesta con opacidades corneales bilaterales (que conducen a una grave disfunción visual), leve discapacidad intelectual, ataxia, trastornos de la marcha y temblor. Otras manifestaciones adicionales incluyen dismorfia facial (cara triangular, ptosis, pabellones auriculares de implantación baja rotados posteriormente y micrognatia), así como leve afectación de la motoneurona superior con hipertonía, hiperreflexia de las extremidades inferiores y reflejo plantar extensor. No ha habido más casos descritos en la literatura desde 1985."},"it":{"name":"Sindrome da degenerazione spinocerebellare e distrofia corneale","synonyms":["Sindrome cornea-cervelletto","Sindrome di Der Kaloustian-Jarudi-Khoury"],"definition":"È una malattia neurologica genetica rara, caratterizzata da degenerazione spinocerebellare a progressione lenta, associata a distrofia della cornea, che esordisce con opacità corneali bilaterali (che causano una grave compromissione della vista), disabilità intellettiva lieve, atassia, anomalie dell'andatura e tremore. Altri segni clinici sono i dismorfismi facciali (viso triangolare, ptosi, orecchie a basso impianto ruotate posteriormente, micrognazia), il lieve interessamento dei motoneuroni superiori con ipertonia, l'iperreflessia degli arti inferiori e le risposte plantari in estensione. Non sono stati descritti nuovi casi dopo il 1985."},"nl":{"name":"Spinocerebellaire degeneratie - corneadystrofie-syndroom","synonyms":["Syndroom van Der Kaloustian-Jarudi-Khoury"],"definition":"Een zeldzame, genetische, neurologische stoornis die gekarakteriseerd wordt door de associatie van traag progressieve spinocerebellaire degeneratie en dystrofie van het hoornvlies, en die zich manifesteert met bilaterale hoornvliestroebelingen (met ernstig functieverlies van het zicht tot gevolg), milde intellectuele achterstand, ataxie, gangstoornissen, en tremor. Bijkomende manifestaties zijn onder meer faciale dysmorfie (i.e. driehoekig gelaat, ptose, laagstaande en naar achteren gedraaide oren, en micrognathie), alsook milde betrokkenheid van bovenste motorneuronen met hypertonie, hyperreflexie van de onderste ledematen, en pathologische voetzoolreflexen. Sinds 1985 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de degenerescência espinocerebelosa-distrofia da córnea","synonyms":["Síndrome Der Kaloustian-Jarudi-Khoury"]},"pl":{"name":"Zespół rogówka - móżdżek","synonyms":["Degeneracja móżdżkowo-rdzeniowa - dystrofia rogówki","Zespół Der Kaloustiana, Jarudi i Khoury'ego"]},"cs":{"name":"Korneální-cerebelární syndrom","synonyms":["Syndrom zahrnující spinocerebelární degeneraci a korneální dystrofii","Der Kaloustianův-Jarudiho-Khouryho syndrom","Der Kaloustian-Jarudi-Khouryho syndrom"]},"uk":{"name":"Синдром спіноцеребеллярної дегенерації-рогівкової дистрофії","synonyms":["Синдром Дер Калоустіана-Яруді-Хурі"],"definition":"A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985."},"zh":{"name":"脊髓小脑退行性变-角膜营养不良综合征","synonyms":["Der Kaloustian-Jarudi-Khoury综合征"]},"tr":{"name":"Spinoserebellar dejenerasyon-korneal distrofi sendromu","synonyms":["Der Kaloustian-Jarudi-Khoury sendromu"]}},"xrefs":[{"source":"OMIM","code":"271310","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9A70.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"577494924"},{"source":"MONDO","code":"0010063","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"10063","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535472","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849087","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1525","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":183518,"name":"Hereditary ataxia","classifications":[156,181]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":98628,"name":"Syndromic corneal dystrophy","classifications":[156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"3872072[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3872072[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-03-19","source":"3872072[PMID]","terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001131","label":"Corneal dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007006","label":"Dorsal column degeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002503","label":"Spinocerebellar tract degeneration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002493","label":"Upper motor neuron dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null}]}}