Achondroplasia, the most common form of inherited disproportionate short stature, is caused by mutations in the fibroblast growth factor receptor 3 gene. The typical clinical features of achondroplasia include short stature, rhizomelic disproportion, joint hyperlaxity, spinal deformity and deformity of the upper and lower limbs. The latter are among the challenges of state-of-the-art orthopaedic treatment plans and significantly contribute to the burden of the disease in individuals with achondroplasia. Multidisciplinary preoperative individual decision-making concerning surgical interventions should be considered. New medical treatments for achondroplasia have been developed and (some) have been approved for clinical use in several countries. While the number of research articles on achondroplasia is increasing rapidly, many unknown or controversial orthopaedic topics remain. Furthermore, in view of new medical developments with improvements in growth and potentially other effects, the timing and algorithms of orthopaedic treatments (e.g. guided growth, limb lengthening and deformity correction) need to be re-evaluated. While standing height is the primary research focus in medical therapy, it is crucial to comprehensively assess orthopaedic parameters in this multifactorial disease. The current treatment of patients with achondroplasia requires specialised multidisciplinary centres with transitional care and individual orthopaedic counselling.
Keywords: Deformity; achondroplasia; multidisciplinary; rare disease; transition.
© The Author(s) 2024.