{"orpha":1884,"name":"Ectopia lentis-chorioretinal dystrophy-myopia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Noble-Bass-Sherman syndrome"],"definition":"A rare, genetic, ophthalmic disorder characterized by the association of lens (ectopia and cataracts) and retinal (generalized tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability has been reported in some patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1884/","orphanet_url":"https://www.orpha.net/en/disease/detail/1884","names":{"fr":{"name":"Syndrome d'ectopie du cristallin-dystrophie choriorétinienne-myopie","synonyms":["Syndrome de Noble-Bass-Sherman"],"definition":"Maladie ophtalmique rare, d'origine génétique, caractérisée par l'association d'anomalies du cristallin (ectopie et cataracte) et de la rétine, (dystrophie tapétorétinienne généralisée et décollement de la rétine), ainsi que par une myopie de degré variable. Une microcéphalie et une déficience intellectuelle ont été rapportées chez certains patients."},"de":{"name":"Ectopia lentis-chorioretinale Dystrophie-Myopie-Syndrom","synonyms":["Noble-Bass-Sherman-Syndrom"],"definition":"Eine seltene, genetisch bedingte Augenerkrankung, die durch die Assoziation von Linsen- (Ektopie und Katarakte) und Netzhautanomalien (generalisierte tapetoretinale Dystrophie und Netzhautablösung) und variabler Myopie gekennzeichnet ist. Bei einigen Patienten wurde über Mikrozephalie und intellektuelle Entwicklungsstörungen berichtet."},"es":{"name":"Síndrome de ectopia de cristalino-distrofia corioretinana-miopía","synonyms":["Síndrome de Noble-Bass-Sherman"],"definition":"Es un trastorno oftálmico, de origen genético y poco frecuente, caracterizado por la asociación de anomalías del cristalino (ectopía y cataratas) y retinianas (distrofia tapetorretiniana generalizada y desprendimiento de retina), así como miopía variable. En algunos pacientes se ha descrito microcefalia y discapacidad intelectual."},"it":{"name":"Sindrome da ectopia del cristallino-distrofia corioretinca-miopia","synonyms":["Sindrome di Noble-Bass-Sherman"],"definition":"Si tratta di una malattia oculare genetica rara, caratterizzata da anomalie del cristallino (ectopia e cataratta) e della retina (distrofia tapeto-retinica generalizzata e distacco della retina), associate a miopia di grado variabile. Alcuni pazienti presentano microcefalia e disabilità intellettiva."},"nl":{"name":"Ectopia lentis - chorioretinale dystrofie - myopie-syndroom","synonyms":["Syndroom van Noble-Bass-Sherman"],"definition":"Een zeldzame, genetische, oftalmische stoornis, gekarakteriseerd door de associatie van anomalieën van lens (ectopie en cataracten) en netvlies (gegeneraliseerde tapetoretinale dystrofie en netvliesloslating), en variabele myopie. Microcefalie en intellectuele achterstand werden gerapporteerd bij sommige patiënten."},"pt":{"name":"Síndrome de ectopia do cristalino-distrofia corio-retiniana-miopia","synonyms":["Síndrome Noble-Bass-Sherman"]},"pl":{"name":"Ektopia soczewki - dystrofia błony naczyniowej i siatkówki - miopia","synonyms":["Zespół Noble'a, Bassa i Shermana"]},"cs":{"name":"Syndrom zahrnující ektopii čočky, chorioretinální dystrofii a myopii","synonyms":["Nobleho-Bassův-Shermanův syndrom","Noble-Bass-Shermanův syndrom"]},"uk":{"name":"Синдром ектопії кришталика-хоріоретинальної дистрофії-міопії","synonyms":["Синдром Ноубла-Басса-Шермана"],"definition":"A rare, genetic, ophthalmic disorder characterized by the association of lens (ectopia and cataracts) and retinal (generalized tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability has been reported in some patients."},"zh":{"name":"晶状体脱位-脉络膜视网膜营养不良-近视综合征","synonyms":["Noble-Bass-Sherman综合征"]},"tr":{"name":"Ektopia lentis-korioretinal distrofi-miyopi sendromu","synonyms":["Noble-Bass-Sherman sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q15.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA12.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1833551772"},{"source":"MONDO","code":"0015997","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536124","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931115","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3999","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":519286,"name":"Rare disorder of the pupil","classifications":[189]},{"orpha":716299,"name":"Rare disorder with non-progressive predominantly chorioretinal disorder as a major feature","classifications":[156,189]},{"orpha":522568,"name":"Rare genetic disorder of the pupil","classifications":[156]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"8334934[PMID]_10420198[PMID]_12049599[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8334934[PMID]_10420198[PMID]_12049599[PMID]"}],"phenotypes":null}