{"orpha":93459,"name":"Syndrome with synostosis or other joint formation defect","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-93459/","orphanet_url":"https://www.orpha.net/en/disease/detail/93459","names":{"fr":{"name":"Syndrome avec synostose ou autre anomalie du développement des articulations"},"de":{"name":"Syndrome mit Synostose oder anderer Gelenkfehlentwicklung"},"es":{"name":"Síndrome con sinostosis y otros defectos en la formación de las articulaciones"},"it":{"name":"Sindrome con sinostosi o altra anomalia dello sviluppo degli arti"},"nl":{"name":"Syndroom met synostose of ander gewrichtsvormingsdefect"},"pt":{"name":"Sinostose ou outro defeito de formação articular"},"pl":{"name":"Kościozrost lub inne zaburzenia połączeń stawowych"},"cs":{"name":"Syndromy se synostózou nebo jiným defektem formace kloubů"},"uk":{"name":"Синдром із синостозом або іншим дефектом формування суглоба"},"zh":{"name":"伴关节早闭或其他关节形成缺陷的综合征"},"tr":{"name":"Sinostozlu sendrom veya diğer eklem oluşum bozukluğu"}},"xrefs":[{"source":"UMLS","code":"C5681596","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1256,"name":"OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome","status":"inactive"},{"type":"Referred to","orpha":294961,"name":"OBSOLETE: Syndromes with synostoses of limbs","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404571,"name":"Dysostosis of genetic origin with limb anomaly as a major feature","classifications":[156]},{"orpha":364568,"name":"Dysostosis with limb anomaly as a major feature","classifications":[147,199]},{"orpha":404577,"name":"Genetic syndrome with limb malformations as a major feature","classifications":[156]},{"orpha":109009,"name":"Syndrome with limb malformations as a major feature","classifications":[147]}],"children":[{"orpha":75496,"name":"B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome","type":"Clinical subtype"},{"orpha":1228,"name":"Banki syndrome","type":"Malformation syndrome"},{"orpha":1275,"name":"Brachydactyly-elbow wrist dysplasia syndrome","type":"Malformation syndrome"},{"orpha":2900,"name":"Leri pleonosteosis","type":"Malformation syndrome"},{"orpha":3237,"name":"Multiple synostoses syndrome","type":"Malformation syndrome"},{"orpha":2760,"name":"OSLAM syndrome","type":"Malformation syndrome"},{"orpha":71289,"name":"Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome","type":"Malformation syndrome"},{"orpha":3270,"name":"Radioulnar synostosis-developmental delay-hypotonia syndrome","type":"Malformation syndrome"},{"orpha":3268,"name":"Radioulnar synostosis-microcephaly-scoliosis syndrome","type":"Malformation syndrome"},{"orpha":3246,"name":"Symphalangism with multiple anomalies of hands and feet","type":"Malformation syndrome"},{"orpha":1412,"name":"Tarsal-carpal coalition syndrome","type":"Malformation syndrome"},{"orpha":3466,"name":"WT limb-blood syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}