Significance and considerations of early diagnosis and treatment for improving  height outcomes in children with achondroplasia

LI Li; XIONG Feng

doi:10.7499/j.issn.1008-8830.2410107

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Chinese Journal of Contemporary Pediatrics ›› 2025, Vol. 27 ›› Issue (3) : 262-268. DOI: 10.7499/j.issn.1008-8830.2410107

SERIES REVIEW—DIAGNOSIS AND TREATMENT OF GROWTH DISORDERS

Significance and considerations of early diagnosis and treatment for improving height outcomes in children with achondroplasia

LI Li, XIONG Feng

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Abstract

Achondroplasia (ACH) is a common skeletal dysplasia in children, primarily caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. These mutations disrupt the process of endochondral ossification in different types of bones, including long bones of the limbs and vertebrae. Children with ACH typically present with short stature and may experience severe multi-system complications. The diagnosis of ACH is based on typical clinical manifestations, imaging features, and genetic testing results. Treatment options mainly include pharmacological interventions and surgical procedures aimed at improving height, as well as symptomatic management for associated complications. This article discusses both prenatal and clinical diagnostic approaches for ACH, as well as treatment strategies focused on enhancing height, aiming to deepen the understanding of this condition.

Key words

Achondroplasia / Early diagnosis / Early treatment / Growth hormone / Height / Child

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LI Li, XIONG Feng. Significance and considerations of early diagnosis and treatment for improving height outcomes in children with achondroplasia[J]. Chinese Journal of Contemporary Pediatrics. 2025, 27(3): 262-268 https://doi.org/10.7499/j.issn.1008-8830.2410107

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