{"orpha":369970,"name":"Microcornea-myopic chorioretinal atrophy-telecanthus syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MMCAT syndrome"],"definition":"A rare syndromic chorioretinal dystrophy characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ecotpia pupilae and retinal detachment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-369970/","orphanet_url":"https://www.orpha.net/en/disease/detail/369970","names":{"fr":{"name":"Syndrome de microcornée-myopie avec atrophie choriorétinienne-télécanthus","synonyms":["Syndrome MMCAT"],"definition":"Défaut génétique rare de développement de l'oeil caractérisé par l'apparition dans l'enfance d'une myopie légère à sévère, d'une microcornée et d'une atrophie choriorétinienne, généralement en association avec un télécanthus et des oreilles orientées en arrière. D'autres caractéristiques variables sont une cataracte précoce, une ectopie du cristallin, une ectopie de la pupille et un décollement de la rétine."},"de":{"name":"Mikrokornea-myopische chorioretinale Atrophie-Telekanthus-Syndrom","synonyms":["MMCAT-Syndrom"]},"es":{"name":"Síndrome de microcórnea-miopía con atrofia coriorretiniana-telecanto","synonyms":["Síndrome MMCAT"],"definition":"El síndrome de microcórnea - atrofia coriorretiniana miópica - telecanto es una enfermedad por defecto del desarrollo ocular, genética y poco frecuente, caracterizada por la aparición en la infancia de miopía, de leve a grave, con microcórnea y atrofia coriorretiniana. Por lo general, se asocia con telecanto y orejas rotadas posteriormente. Otras características variables incluyen cataratas de inicio temprano, ectopia lentis, ectopia pupilar y desprendimiento de retina."},"it":{"name":"Sindrome da microcornea, atrofia corioretinica miopica e telecanto","synonyms":["Sindrome MMCAT"],"definition":"La sindrome che associa la microcornea, l'atrofia corioretinica miopica e il telecanto è un difetto genetico raro dello sviluppo dell'occhio, caratterizzato da miopia lieve-grave ad esordio infantile con microcornea ed atrofia corioretinica, di solito associate a telecanto e orecchie ruotate posteriormente. Altri segni clinici variabili sono la cataratta ad esordio precoce, la dislocazione del cristallino e delle pupille e il distacco della retina."},"nl":{"name":"Microcornea - myopische chorioretinale atrofie - telecanthus-syndroom","synonyms":["MMCAT-syndroom"],"definition":"Microcornea - myopische chorioretinale atrofie - telecanthus-syndroom is een zeldzame, genetische ziekte met een ontwikkelingsdefect van het oog, en wordt gekarakteriseerd door aanvang in de kindertijd van milde tot ernstige myopie met microcornea en chorioretinale atrofie, doorgaans geassocieerd met telecanthus en naar achteren gedraaide oren. Andere variabele kenmerken zijn onder meer vroeg aanvangende cataracten, ectopia lentis, ectopia pupillae en netvliesloslating."},"pt":{"name":"Síndrome de microcórnea – atrofia coriorretiniana miópica - telecanto"},"pl":{"name":"Zespół mała rogówka - atrofia naczyniówki i siatkówki z krótkowzrocznością - telecanthus","synonyms":["Zespół MMCAT"],"definition":"*Zespół mała rogówka - atrofia naczyniówki i siatkówki z krótkowzrocznością - telecanthus jest rzadką, genetycznie uwarunkowaną wadą rozwojową oczu, która charakteryzuje się łagodną lub ciężką krótkowzrocznością z małą rogówką oraz zanikiem naczyniówki i siatkówki o początku w okresie dzieciństwa. Zazwyczaj towarzyszy jej telecanthus i zrotowane ku tyłowi uszy. Inne zmiennie występujące objawy to zaćma o wczesnym początku, przemieszczenie soczewki, przemieszczenie źrenicy oraz odwarstwienie siatkówki.inf brsup"},"cs":{"name":"Syndrom zahrnující mikrokorneu, myopickou chorioretinální atrofii a telekantus","synonyms":["MMCAT syndrom"]},"uk":{"name":"Синдром мікророгівки-міопічної хоріоретинальної атрофії-телекантуса","synonyms":["Синдром MMCAT"],"definition":"A rare syndromic chorioretinal dystrophy characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ecotpia pupilae and retinal detachment."},"zh":{"name":"小角膜、缺乏辨别力的脉络膜视网膜萎缩和内眦距过宽综合征","synonyms":["MMCAT综合征"],"definition":"微角膜-近视性脉络膜视网膜萎缩-远视综合征是一种罕见的遗传性、发育性眼病，其特征是儿童期起病的轻至重度近视伴有微角膜和脉络膜视网膜萎缩，通常与远视和耳后旋转有关。本病其他可变特征包括早发性白内障、晶状体异位、瞳孔异位和视网膜脱离。"},"tr":{"name":"Mikrokornea-miyopik korioretinal atrofi-telekantus sendromu","synonyms":["MMCAT sendromu"]}},"xrefs":[{"source":"OMIM","code":"615458","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q15.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B61","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014195","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"14195","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751602","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":716299,"name":"Rare disorder with non-progressive predominantly chorioretinal disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[{"symbol":"ADAMTS18","name":"ADAM metallopeptidase with thrombospondin type 1 motif 18","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23818446[PMID]","hgnc":"17110","ensembl":"ENSG00000140873","omim":"607512","loci":["16q23.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"23818446[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}