Acondroplasia: manejo clínico, diretrizes e perspectivas terapêuticas — uma revisão narrativa

Abstract

Achondroplasia is the most common genetic form of short-limb skeletal dysplasia (resulting from a pathogenic, heterozygous variant of the gene encoding fibroblast growth factor receptor 3 – FGFR3). The clinical manifestations triggered by this condition affect the quality of life of individuals. Few discussions are found in the literature and, for this reason, this review brought to light several important aspects to be developed in multidisciplinary teams. The scarcity of publications on the subject reiterates the need to develop techniques and medications to benefit individuals who present it. Ten articles were selected from a total of 12 published in the PubMed database between 2021 and 2025 to illustrate aspects such as techniques and clinical management. Also, to better understand chondroplasia, guidelines from several countries on the subject were addressed, which address various aspects of this condition.