Kraler B, Chiari C, Farr S, Kranzl A, Kainz T, Patsch J, Mindler G
Abteilung für Kinderorthopädie und Fußchirurgie, Orthopädisches Spital Speising, Speisinger Str. 109, 1130, Wien, Österreich.
Vienna Bone and Growth Center, European Reference Network on Rare Bone Diseases Full Member, Wien, Österreich.
Orthopadie (Heidelb). 2025 Jul 11. doi: 10.1007/s00132-025-04676-x.
Skeletal dysplasias (SD) are a heterogeneous group of rare hereditary diseases with pronounced skeletal involvement and include over 750 phenotypes, which are associated with disease-triggering variants in more than 550 genes. In addition to orthopedic treatment, a network of various disciplines is necessary to ensure high-quality diagnostics and treatment for SD. This is ideally carried out at a center specialized in the treatment of rare bone diseases (European Reference Network on Rare Bone Diseases). The close networking of orthopedics with pediatrics and other disciplines is important to enable a state-of-the-art treatment and to monitor the influences of new forms of pharmacotherapy on the musculoskeletal apparatus.
骨骼发育异常（SD）是一组罕见的遗传性疾病，具有明显的骨骼受累特征，包括750多种表型，与550多个基因中的疾病触发变异有关。除了骨科治疗外，还需要一个多学科网络来确保对骨骼发育异常进行高质量的诊断和治疗。理想情况下，这应在专门治疗罕见骨病的中心（欧洲罕见骨病参考网络）进行。骨科与儿科及其他学科的紧密协作对于实现先进治疗以及监测新型药物疗法对肌肉骨骼系统的影响非常重要。
