{"orpha":404577,"name":"Genetic syndrome with limb malformations as a major feature","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-404577/","orphanet_url":"https://www.orpha.net/en/disease/detail/404577","names":{"fr":{"name":"Syndrome d'origine génétique avec anomalie des membres comme manifestation majeure"},"de":{"name":"Genetische Syndrome mit Extremitätenfehlbildung als Hauptmerkmal"},"es":{"name":"Síndrome genético con malformaciones de las extremidades como característica principal"},"it":{"name":"Sindrome genetica con malformazione degli arti come segno cardinale"},"nl":{"name":"Genetisch syndroom met ledemaatmalformaties als hoofdkenmerk"},"pt":{"name":"Síndrome genética com malformações nos membros como característica principal"},"pl":{"name":"Zespół genetyczny z malformacjami kończyn jako głównym objawem"},"cs":{"name":"Geneticky podmíněné syndromy s malformacemi končetin jako hlavním příznakem"},"uk":{"name":"Генетично обумовлений синдром, основною ознакою якого є вади розвитку кінцівок"},"zh":{"name":"以肢体畸形为主要特征的遗传综合征"},"tr":{"name":"Esas klinik özelliği ekstremite malformasyonu olan genetik sendrom"}},"xrefs":[{"source":"UMLS","code":"C5681141","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183536,"name":"Genetic congenital limb malformation","classifications":[156]}],"children":[{"orpha":1325,"name":"Camptodactyly-taurinuria syndrome","type":"Malformation syndrome"},{"orpha":444941,"name":"Caudal regression-sirenomelia spectrum","type":"Clinical group"},{"orpha":69028,"name":"Dysostosis with brachydactyly","type":"Category"},{"orpha":294957,"name":"Dysostosis with combined reduction defects of upper and lower limbs","type":"Category"},{"orpha":1927,"name":"Emery-Nelson syndrome","type":"Malformation syndrome"},{"orpha":3294,"name":"Extensor tendons of finger anomalies","type":"Malformation syndrome"},{"orpha":199315,"name":"Familial clubfoot with or without associated lower limb anomalies","type":"Malformation syndrome"},{"orpha":465824,"name":"Fetal encasement syndrome","type":"Malformation syndrome"},{"orpha":723416,"name":"Genetic arthrogryposis syndrome","type":"Category"},{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","type":"Category"},{"orpha":228184,"name":"Heart-hand syndrome","type":"Category"},{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","type":"Category"},{"orpha":93459,"name":"Syndrome with synostosis or other joint formation defect","type":"Category"},{"orpha":592570,"name":"TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome","type":"Malformation syndrome"},{"orpha":2251,"name":"Thumb deformity-alopecia-pigmentation anomaly syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}