Diagnosis and Management of Achondroplasia in Childhood: Evidence - Based Update and Case Report

Ana Maria Sepulveda Gomez, Luisa Muskus Diaz, Jorge Luis Ordonez Hernandez

Abstract: Achondroplasia is the most common skeletal dysplasia, characterized by disproportionate short stature caused by a mutation in the FGFR3 gene. This alteration leads to abnormal activation of the MAPK signaling pathway, inhibiting chondrocyte proliferation and differentiation in growth plates. Achondroplasia follows an autosomal dominant inheritance pattern with complete penetrance, though most cases result from de novo variants, often linked to advanced paternal age. Globally, its prevalence varies by region, and in Colombia, although recognized as a rare disease, precise epidemiological data are not available. We present the case of a pediatric patient from Colombia diagnosed with achondroplasia through clinical, radiological, and molecular evaluation, confirming the pathogenic heterozygous c.1138G>A (p. Gly380Arg) variant in FGFR3. After identifying open growth plates, eligibility for treatment with vosoritide was established. Vosoritide is the only drug approved by the EMA and FDA to improve growth velocity in these patients. This case highlights the importance of early diagnosis, multidisciplinary management, and access to innovative treatments to enhance the quality of life of individuals with achondroplasia.

Keywords: short stature, achondroplasia, skeletal dysplasia, FGFR3, case report