Abstract
INTRODUCTION AND IMPORTANCE: Fibrodysplasia Ossificans Progressiva (FOP) is an exceptionally rare genetic disorder characterized by progressive heterotopic ossification of soft tissues and congenital skeletal anomalies. CASE PRESENTATION: This report presents the case of a 12-year-old boy with hallmark features of FOP alongside rare congenital abnormalities, including bilateral microdactyly and thumb adhesion to the palms. CLINICAL DISCUSSION: Initially misdiagnosed as muscular dystrophy, the patient's condition deteriorated under inappropriate management. Genetic testing confirmed a heterozygous mutation (c.617G > A; p.R206H) in the ACVR1 gene. CONCLUSION: This case highlights the importance of early recognition of atypical congenital malformations in FOP, the risks of invasive interventions, and the necessity for genetic confirmation to prevent iatrogenic harm. A comprehensive review of the literature is also provided.