The Cost of Curiosity: A tale of too much testing in a case of Isolated Macro-syndactyly

Abstract

Isolated macro-syndactyly is a rare congenital anomaly characterized by enlarged, fused digits, which may exist independently or as part of genetic syndromes. We report the case of a 4-year-old female presenting with congenital enlargement and fusion of the right third and fourth digits. The child was developmentally normal, with no systemic abnormalities or functional impairment, and the parental concern was primarily cosmetic. Despite low syndromic suspicion, the family pursued extensive genetic testing, including chromosomal microarray and sequencing for overgrowth-related genes, which were negative. Radiographs confirmed soft tissue and bony fusion without additional skeletal anomalies. Conservative management with counseling was advised, reserving surgical options for future cosmetic or functional needs. This case highlights the importance of thorough clinical evaluation in distinguishing isolated cases from syndromic associations. It also underscores the potential pitfalls of unnecessary exhaustive testing, which may increase cost and anxiety without influencing management in such localized anomalies.