{"orpha":3449,"name":"Weill-Marchesani syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare connective tissue disorder characterized by acromelic short stature, joint stiffness, stiff and thick skin, and characteristic eye abnormalities including microspherophakia, ectopia lentis, severe myopia, and glaucoma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3449/","orphanet_url":"https://www.orpha.net/en/disease/detail/3449","names":{"fr":{"name":"Syndrome de Weill-Marchesani","definition":"Maladie rare du tissu conjonctif caractérisée par un nanisme acromélique, une raideur articulaire, une peau épaissie et rigide, ainsi que des anomalies oculaires caractéristiques, notamment une microsphérophakie, une ectopie du cristallin, une myopie sévère et un glaucome."},"de":{"name":"Weill-Marchesani-Syndrom","synonyms":["Sphärophakie-Brachymorphie-Syndrom"],"definition":"Das Weill-Marchesani-Syndrom (WMS) ist eine Krankheit mit Minderwuchs, Brachydaktylie, Gelenkversteifung und charakteristischen Augenanomalien (Mikrosphaerophakie, Linsenektopie, schwere Myopie, Glaukom)."},"es":{"name":"Síndrome de Weill-Marchesani","definition":"El síndrome de Weill-Marchesani (WMS) es una enfermedad rara caracterizada por estatura corta, braquidactilia, rigidez en las articulaciones, y anomalías características de los ojos incluyendo microesferofaquia, ectopía de la lente, miopía severa y glaucoma."},"it":{"name":"Sindrome Weill-Marchesani"},"nl":{"name":"Syndroom van Weill-Marchesani","definition":"Een zeldzame aandoening van bindweefsel, gekenmerkt door acromelische kleine gestalte, stijfheid van gewrichten, stijve en dikke huid, en typerende oogafwijkingen waaronder microsferofakie, ectopia lentis, ernstige myopie, en glaucoom."},"pt":{"name":"Síndrome Weill-Marchesani","synonyms":["Síndrome de esferofaquia-braquimorfia"]},"pl":{"name":"Zespół Weilla i Marchesaniego","synonyms":["Sferofakia - brachymorfia"]},"cs":{"name":"Weillův-Marchesaniho syndrom","synonyms":["Syndrom zahrnující sferofakii a brachymorfii","Weill-Marchesaniho syndrom"]},"uk":{"name":"Синдром Вайля-Маркесані","synonyms":["Синдром сферофакії-брахіморфії"],"definition":"Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma."},"zh":{"name":"Weill-Marchesani综合征","synonyms":["球形晶状体-短形综合征"]},"tr":{"name":"Weill-Marchesani sendromu","synonyms":["Sferofaki-brakimorfi sendromu"]}},"xrefs":[{"source":"OMIM","code":"277600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608328","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613195","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614819","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"9C61.42","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1683934843"},{"source":"MONDO","code":"0018096","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D056846","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265313","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4936","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10064963","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93436,"name":"Acromelic dysplasia","classifications":[147,156,199]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":98638,"name":"Rare disease with glaucoma as a major feature","classifications":[156,189]},{"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":"ADAMTS17","name":"ADAM metallopeptidase with thrombospondin type 1 motif 17","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19836009[PMID]","hgnc":"17109","ensembl":"ENSG00000140470","omim":"607511","loci":["15q26.3"]},{"symbol":"ADAMTS10","name":"ADAM metallopeptidase with thrombospondin type 1 motif 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301293[PMID]","hgnc":"13201","ensembl":"ENSG00000142303","omim":"608990","loci":["19p13.2"]},{"symbol":"FBN1","name":"fibrillin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301293[PMID]","hgnc":"3603","ensembl":"ENSG00000166147","omim":"134797","loci":["15q21.1"]},{"symbol":"LTBP2","name":"latent transforming growth factor beta binding protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301293[PMID]_22539340[PMID]","hgnc":"6715","ensembl":"ENSG00000119681","omim":"602091","loci":["14q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Worldwide","status":"Not yet validated","source":"20301293[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-18","source":"20301293[PMID]","terms":[{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011003","label":"High myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030961","label":"Microspherophakia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001083","label":"Ectopia lentis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005184","label":"Prolonged QTc interval","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null}]}}