{"orpha":2084,"name":"Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["GEMSS syndrome"],"definition":"A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2084/","orphanet_url":"https://www.orpha.net/en/disease/detail/2084","names":{"fr":{"name":"Syndrome de glaucome-ectopie du cristallin-sphérophakie-raideur articulaire-petite taille","synonyms":["Syndrome GEMSS"],"definition":"Syndrome rare caractérisé par une raideur articulaire progressive, un glaucome, une petite taille et une ectopie du cristallin. Il a été décrit chez trois membres d'une famille (le grand-père, sa fille et son petit-fils). Il se transmet probablement sur le mode autosomique dominant. L'acronyme GEMSS (<I>Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature</I>) a été proposé. Ce syndrome pourrait être identique au syndrome de Moore-Federman."},"de":{"name":"Glaukom-Ektopia lentis-Mikrosphärophakie-steife Gelenke-Kleinwuchs-Syndrom","synonyms":["GEMSS-Syndrom"],"definition":"Eine seltene syndromale Augenerkrankung, die durch fortschreitende Gelenksteifheit, Glaukom, Kleinwuchs und Linsenluxation gekennzeichnet ist. Dieses Syndrom weist Ähnlichkeiten mit dem Moore-Federman-Syndrom auf."},"es":{"name":"Síndrome de glaucoma-ectopia lentis-microesferofaquia-rigidez articular-talla baja","synonyms":["Síndrome GEMSS"],"definition":"Es un trastorno ocular sindrómico de origen genético poco frecuente caracterizado por rigidez articular progresiva, glaucoma, talla baja y luxación del cristalino. Este síndrome muestra similitud con el síndrome de Moore-Federman."},"it":{"name":"Glaucoma - ectopia - sferofachia - rigidità articolare - bassa statura","synonyms":["Sindrome GEMSS"]},"nl":{"name":"Glaucoom - ectopia lentis - microsferofakie - stijve gewrichten - kleine gestalte-syndroom","synonyms":["GEMSS-syndroom"],"definition":"Een syndroom, gekenmerkt door progressieve stijfheid van gewrichten, glaucoom, kleine gestalte, en lensluxatie. Glaucoom - ectopie - microsferofakie - stijve gewrichten - kleine gestalte-syndroom werd beschreven bij drie leden van een familie (een grootvader, zijn dochter en zijn kleinzoon). Het wordt waarschijnlijk overgedragen als een autosomaal dominant kenmerk. Het acroniem GEMSS (glaucoom, ectopie, microsferofakie, stijve gewrichten, kleine ('short') gestalte) werd voorgesteld als naam voor het syndroom. Dit syndroom toont gelijkenissen met syndroom van Moore-Federman."},"pt":{"name":"Síndrome de glaucoma-ectopia do cristalino-microesferofaquia-rigidez articular-baixa estatura","synonyms":["Síndrome Gemss"]},"pl":{"name":"Jaskra - ektopia - soczewka mała i kulista - sztywność stawów - niski wzrost","synonyms":["Zespół Gemssa"]},"cs":{"name":"Syndrom zahrnující glaukom, ektopii, mikrosférofakii, ztuhlé klouby a nízký vzrůst","synonyms":["GEMSS syndrom"]},"uk":{"name":"Синдром глаукоми-ектопії кришталика-мікросферофакії-рухливості суглобів- низького зросту","synonyms":["Синдром GEMSS"],"definition":"A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome."},"zh":{"name":"青光眼-晶状体异位-小球形晶状体-关节僵硬-身材矮小综合征","synonyms":["GEMSS综合征"]},"tr":{"name":"Glokom-ektopia lentis-mikrosferofaki-sert eklemler-kısa boy sendromu","synonyms":["GEMSS sendromu"]}},"xrefs":[{"source":"OMIM","code":"608328","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012013","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537679","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931588","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2452","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":519292,"name":"Syndromic ectopia lentis","classifications":[147,189]},{"orpha":522554,"name":"Syndromic genetic ectopia lentis","classifications":[156]},{"orpha":519294,"name":"Syndromic microspherophakia","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"FBN1","name":"fibrillin 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"3603","ensembl":"ENSG00000166147","omim":"134797","loci":["15q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"1519650[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1519650[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001083","label":"Ectopia lentis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null}]}}