Abstract

ACHONDROPLASIA IN CHILDREN: SYMPTOMS, EARLY DIAGNOSIS AND TREATMENT MANAGEMENT

Nissi Pallikonda*, Deepthi Kandula, Bhumika Chowdary Mulpuri, Hima Varshini Bellamkonda Bhavani Bolla and Padmalatha Kantamaneni

ABSTRACT

Achondroplasia is the most prevalent skeletal dysplasia associated withsignificant short stature (dwarfism). While its clinical and radiographiccharacteristics have been well documented for over five decades, thereremains much to learn about the medical ch allenges linked to thiscondition, the most effective methods for diagnosis and management,and the potential for preventive measures to improve health outcomes.This review offers an updated overview of the care requirements forindividuals with achondrop lasia, examines the current limitations ofavailable evidence in guiding treatment approaches. Achondroplasia(ACH) is a genetic disorder caused by a missense mutation in theFGFR3 (fibroblast growth factor receptor 3) gene and is the leadingcause of shor t stature in humans. Effective treatment is crucial, asuntreated achondroplasia is associated with numerous orthopedic andneurological complications that can result in significant disability. Thisreview explores both current and emerging pharmacological treatmentsfor achondroplasia, assessing the benefits and drawbacks of variousdrugs based on human and animal studies at different stages of clinicaltrials. The potentialeffects of these treatments on other symptoms such as spinal canal stenosis, foram en magnum narrowing. Managing these complications could greatly enhance patients' quality oflife by reducing the need for frequent hospitalizations and invasive surgical interventions,which remain the primary therapeutic options today. Among available tr eatments,recombinant human growth hormone currently meets the criteria for an effective drug, whilevosoritide shows promise as a future option. Pathogenic variations in the fibroblast growthfactor receptor 3 gene result in decreased endochondral ossific ation, which causesachondroplasia.

Keywords: Achondroplasia, Clinical care, FGFR3, Skeletal dysplasia, Management guidelines.