[Skeletal dysplasias-Multidisciplinary orthopedics].

Abstract

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.