{"orpha":363992,"name":"Ichthyosis-short stature-brachydactyly-microspherophakia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["15q26.3 microdeletion syndrome"],"definition":"A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363992/","orphanet_url":"https://www.orpha.net/en/disease/detail/363992","names":{"fr":{"name":"Syndrome d'ichtyose-petite taille-brachydactylie-microsphérophakie","synonyms":["Syndrome de microdélétion 15q26.3"],"definition":"Ichtyose syndromique rare caractérisée par une membrane rigide, tendue et brillante (dite membrane collodion) à la naissance, une ichtyose congénitale généralisée, une microsphérophakie, une myopie, une ectopie du cristallin, une petite taille avec brachydactylie et rigidité articulaire, et dans de rares cas par une dysplasie de la valve mitrale."},"de":{"name":"Ichthyose-Kleinwuchs-Brachydaktylie-Mikrosphärenphakie-Syndrom","synonyms":["Mikrodeletionssyndrom 15q26.3"]},"es":{"name":"Síndrome de ictiosis-talla baja-braquidactilia-microesferofaquia","synonyms":["Síndrome de microdeleción 15q26.3"],"definition":"Es una ictiosis sindrómica poco frecuente caracterizada por membrana colodión al nacimiento, ictiosis congénita generalizada, microesferofaquia, miopía, ectopia lentis, talla baja con braquidactilia y rigidez articular y, ocasionalmente, displasia de la válvula mitral."},"it":{"name":"Sindrome ittiosi-bassa statura-brachidattilia-microsferofachia","synonyms":["Sindrome da microdelezione 15q26.3"],"definition":"È un'ittiosi sindromica rara, caratterizzata dalla presenza di una membrana colloidale alla nascita, ittiosi congenita generalizzata, microsferofachia, miopia, dislocazione del cristallino, bassa statura con brachidattilia e rigidità articolare e, raramente, displasia della valvola mitrale."},"nl":{"name":"Ichthyosis - kleine gestalte - brachydactylie - microsferofakie-syndroom","synonyms":["15q26.3-microdeletiesyndroom"],"definition":"Een zeldzame, syndromale ichthyosis die gekarakteriseerd wordt door een collodion membraan bij de geboorte, gegeneraliseerde congenitale ichthyosis, microsferofakie, myopie, ectopia lentis, kleine gestalte met brachydactylie en stijfheid van gewrichten, en occasioneel dysplasie van de mitralisklep."},"pt":{"name":"Síndrome de ictiose-baixa estatura-braquidactilia-microsferofaquia"},"pl":{"name":"Zespół rybia łuska-niski wzrost-brachydaktylia-mikrosferofakia","synonyms":["Zespół mikrodelecji 15q26.3"]},"cs":{"name":"Syndrom zahrnující ichtyózu, nízký vzrůst, brachydaktylii a mikrosférofakii","synonyms":["Mikrodeleční syndrom 15q26.3"]},"uk":{"name":"Синдром іхтіозу-низькорослості-брахідактилії-мікросферофакії","synonyms":["Синдром мікроделеції 15q26.3"],"definition":"A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia."},"zh":{"name":"鱼鳞病-身材矮小-短指-小球形晶状体综合征","synonyms":["15q26.3微缺失综合征"],"definition":"本病是一种罕见的先兆性鱼鳞病，特征是出生时有棉铃虫膜，先天性鱼鳞病，广泛性球菌病，近视，长视性扁桃体，身材矮小，近视和关节僵硬，偶有二尖瓣发育不良。"},"tr":{"name":"İktiyoz-kısa boy-brakidaktili-mikrosferofaki sendromu","synonyms":["15q26.3 mikrodelesyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"613195","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615023","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013176","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190986","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":281244,"name":"Autosomal ichthyosis syndrome with other associated signs","classifications":[156,187]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]},{"orpha":519294,"name":"Syndromic microspherophakia","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"ADAMTS17","name":"ADAM metallopeptidase with thrombospondin type 1 motif 17","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"23754960[PMID]","hgnc":"17109","ensembl":"ENSG00000140470","omim":"607511","loci":["15q26.3"]},{"symbol":"CERS3","name":"ceramide synthase 3","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"23754960[PMID]","hgnc":"23752","ensembl":"ENSG00000154227","omim":"615276","loci":["15q26.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"23754960[PMID]_24940034[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24940034[PMID]"}],"phenotypes":null}