Genetically Proven Isolated Macrodactyly of the Digitus Medius: A Case Report

Background: Macrodactyly is a rare congenital anomaly that involves the abnormal enlargement of the digits. Clinical Description: A 4-year-old boy presented with overgrowth of the right middle finger since birth. He was born at term via normal delivery with an otherwise healthy history. The affected finger was disproportionately long, growing further without functional impairment, though it caused social stigma and psychological stress for the family. Examination revealed a large middle phalanx and hypertrophied fingernail but no other abnormalities. Management and Outcome: X-rays showed bony and soft-tissue overgrowth consistent with macrodactyly, whereas magnetic resonance imaging revealed significant hypertrophy and fat accumulation. Genetic testing identified a PIK3CA-H1047R/L/Y mutation. A multidisciplinary team, including orthopedic and rehabilitation specialists, reviewed the case. Given the child’s age and lack of functional issues, surgery was postponed. The parents were advised to follow up regularly and were informed about the potential need for future debulking surgery if overgrowth progresses. Conclusion: This report emphasizes the value of genetic testing and a multidisciplinary approach in managementof such cases.