{"orpha":527450,"name":"Severe myopia-generalized joint laxity-short stature syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare developmental defect with connective tissue involvement characterized by joint hyperextensibility and multiple dislocations of large joints, severe myopia, and short stature. Other common features include retinal detachment, iris and chorioretinal coloboma, kyphoscoliosis and other spine deformities, pectus carinatum, talipes equinovarus, and progressive hearing loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-527450/","orphanet_url":"https://www.orpha.net/en/disease/detail/527450","names":{"fr":{"name":"Syndrome de myopie sévère-hyperlaxité articulaire généralisée-petite taille","definition":"Anomalie rare du développement affectant le tissu conjonctif, caractérisée par une hyperlaxité articulaire et de multiples dislocations des grandes articulations, une myopie sévère et une petite taille. Les autres caractéristiques communes sont le décollement de la rétine, le colobome de l'iris et de la choriorétine, la cyphoscoliose et d'autres déformations de la colonne vertébrale, le pectus carinatum, le talipes equinovarus et la perte progressive de l'audition."},"de":{"name":"Schwere Myopie-generalisierte Überstreckbarkeit der Gelenke-Kleinwuchs-Syndrom","definition":"Eine seltene Entwicklungsstörung mit Bindegewebsbeteiligung, die gekennzeichnet ist durch Überstreckbarkeit der Gelenke, multiple Dislokationen großer Gelenke, schwere Myopie und Kleinwuchs. Weitere häufige Merkmale sind Netzhautablösung, Iris- und Chorioretinalkolobom, Kyphoskoliose und andere Wirbelsäulendeformitäten, Pectus carinatum, Klumpfüße und progressive Schwerhörigkeit."},"es":{"name":"Síndrome de miopía grave-laxitud articular generalizada-talla baja","definition":"En un defecto poco frecuente del desarrollo con afectación del tejido conectivo que se caracteriza por hiperextensibilidad articular y múltiples luxaciones de grandes articulaciones, miopía grave y talla baja. Otras características habituales incluyen desprendimiento de retina e iris y coloboma coriorretiniano, cifoescoliosis y otras deformidades de la columna, pectus carinatum, talipes equinovarus e hipoacusia progresiva."},"it":{"name":"Sindrome grave miopia-lassità articolare generalizzata-bassa statura","definition":"Si tratta di un difetto raro dello sviluppo con interessamento del tessuto connettivo, caratterizzato dall'iperlassità articolare e dalle dislocazioni multiple delle grandi articolazioni, miopia grave e bassa statura. Altri segni clinici comuni sono il distacco della retina, il coloboma corioretinico e dell'iride, la cifoscoliosi e altri difetti della colonna, il pectus carinatum, i piedi equino-vari e la sordità progressiva."},"nl":{"name":"Ernstige myopie - gegeneraliseerde gewrichtslaxiteit - kleine gestalte-syndroom","definition":"Een zeldzaam ontwikkelingsdefect met betrokkenheid van bindweefsel, gekarakteriseerd door gewrichtshypermobiliteit en multipele luxaties van grote gewrichten, ernstige myopie, en kleine gestalte. Overige gangbare kenmerken zijn onder meer netvliesloslating, coloboom van iris, choroidea en retina, kyfoscoliose en andere misvormingen van wervelkolom, pectus carinatum, talipes equinovarus, en progressief gehoorverlies."},"pt":{"name":"Síndrome de miopia grave-hipermobilidade articular generalizada-baixa estatura"},"pl":{"name":"Zespół ciężkiej miopatii-uogólnionej nadmiernej ruchomości stawów-niskiego wzrostu"},"cs":{"name":"Syndrom zahrnující těžkou krátkozrakost, generalizovanou hypermobilitu kloubů a malý vzrůst"},"uk":{"name":"Синдром тяжкої міопії-генералізованої тугорухливості суглобів-низькорослості","definition":"A rare developmental defect with connective tissue involvement characterized by joint hyperextensibility and multiple dislocations of large joints, severe myopia, and short stature. Other common features include retinal detachment, iris and chorioretinal coloboma, kyphoscoliosis and other spine deformities, pectus carinatum, talipes equinovarus, and progressive hearing loss."},"zh":{"name":"重度近视-全身关节松弛-身材矮小综合征","definition":"一种罕见的发育缺陷，结缔组织受累，其特点是关节伸展过度和大关节多处脱位，严重的近视和身材矮小。其他常见的特征包括视网膜脱离、虹膜和脉络膜视网膜缺损、脊柱后凸侧弯和其他脊柱畸形、鸡胸、马蹄内翻足，以及进行性听力损失。"},"tr":{"name":"Ağır miyopi-jeneralize eklem gevşekliği-kısa boy sendromu"}},"xrefs":[{"source":"OMIM","code":"617662","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.E","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0060556","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4540020","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93441,"name":"Primary bone dysplasia with multiple joint dislocations","classifications":[147,156,199]},{"orpha":139030,"name":"Rare developmental defect with connective tissue involvement","classifications":[147,156]}],"children":[],"genes":[{"symbol":"GZF1","name":"GDNF inducible zinc finger protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28475863[PMID]","hgnc":"15808","ensembl":"ENSG00000125812","omim":"613842","loci":["20p11.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"28475863[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28475863[PMID]"}],"phenotypes":null}