{"orpha":240,"name":"Léri-Weill dyschondrosteosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Léri-Weill syndrome"],"definition":"A rare, genetic skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-240/","orphanet_url":"https://www.orpha.net/en/disease/detail/240","names":{"fr":{"name":"Dyschondrostéose de Léri-Weill","synonyms":["Syndrome de Léri-Weill"],"definition":"Dysplasie osseuse primaire rare d'origine génétique, marquée par une petite taille disproportionnée et une déformation du poignet comparable à la déformation de Madelung."},"de":{"name":"Léri-Weill-Dyschondrosteose","synonyms":["Leri-Weill-Syndrom"],"definition":"Eine genetisch bedingte Skelettdysplasie, die durch eine Kombination von überproportionalem Kleinwuchs und Madelung-Deformität gekennzeichnet ist."},"es":{"name":"Discondrosteosis de Léri-Weill","synonyms":["Síndrome de Léri-Weill"],"definition":"Es una displasia esquelética poco frecuente y de origen genético caracterizada por talla baja desproporcionada y la típica deformidad de Madelung de la muñeca."},"it":{"name":"Discondrosteosi di Léri-Weill","synonyms":["Sindrome di Léri-Weill"],"definition":"La discondrosteosi di Léri-Weill (DLW) è una displasia scheletrica genetica rara, caratterizzata da bassa statura sproporzionata e deformità di Madelung del polso."},"nl":{"name":"Dyschondrosteose van Léri-Weill","synonyms":["Syndroom van Léri-Weill"],"definition":"Een zeldzame, genetische skeletdysplasie, gekenmerkt door disproportioneel kleine gestalte en de karakteristieke polsmisvorming van Madelung."},"pt":{"name":"Discondrosteose de Léri-Weill","definition":"A discondrosteose de Léri-Weill (LWD) é uma displasia esquelética caracterizada por baixa estatura desproporcionada e deformidade de Madelung no pulso (ver este termo)."},"pl":{"name":"Dyschondrosteoza Lériego i Weilla","synonyms":["Zespół Lériego i Weilla"]},"cs":{"name":"Lériho-Weillova dyschondroosteóza","synonyms":["Lériho-Weillův syndrom","Léri-Weillova dyschondroosteóza","Léri-Weillův syndrom"]},"uk":{"name":"Дисхондростероз Лері-Вейля","synonyms":["Синдром Лері-Вейля"],"definition":"A rare, genetic skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity."},"zh":{"name":"LÚri-Weill软骨发育不良","synonyms":["Léri-Weill综合征"]},"tr":{"name":"Léri-Weill diskondrosteoz","synonyms":["Léri-Weill sendromu"]}},"xrefs":[{"source":"OMIM","code":"127300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.A","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"334390528"},{"source":"MONDO","code":"0007481","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537119","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265309","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3224","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":35688,"name":"OBSOLETE: Madelung deformity","status":"inactive"},{"type":"Referred to","orpha":295221,"name":"OBSOLETE: Madelung deformity, unilateral","status":"inactive"},{"type":"Referred to","orpha":295223,"name":"OBSOLETE: Madelung deformity, bilateral","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93438,"name":"Mesomelic and rhizo-mesomelic dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"SHOX","name":"SHOX homeobox","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301394[PMID]","hgnc":"10853","ensembl":"ENSG00000185960","omim":"312865","loci":["Xp22.33 and Yp11.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001191","label":"Abnormal carpal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031095","label":"Abnormal humerus morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002818","label":"Abnormal morphology of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002992","label":"Abnormality of tibia morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010624","label":"Aplastic/hypoplastic toenail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010579","label":"Cone-shaped epiphysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005019","label":"Diaphyseal thickening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008873","label":"Disproportionate short-limb short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006459","label":"Dorsal subluxation of ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100777","label":"Exostoses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002984","label":"Hypoplasia of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003022","label":"Hypoplasia of the ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001804","label":"Hypoplastic fingernail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006248","label":"Limited wrist movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003067","label":"Madelung deformity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003027","label":"Mesomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006443","label":"Patellar aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002986","label":"Radial bowing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005736","label":"Short tibia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002982","label":"Tibial bowing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003031","label":"Ulnar bowing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002683","label":"Abnormality of the calvaria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null}]}}