Isolated Ectrodactyly in a Late Preterm Neonate: A Case Report

Abstract

Ectrodactyly, also known as Split Hand Foot Malformation (SHFM), is a rare congenital limb defect characterized by the partial or complete absence of the central rays of the hands and feet, resulting in a varied spectrum of anomalies ranging from mild digital deficiencies to the classic “split” appearance of the affected limb. It may involve a single or multiple extremities, and its presentation can vary widely even within the same family. Ectrodactyly may occur as an isolated malformation or as part of a broader syndrome, often associated with additional craniofacial, auditory, or neurodevelopmental abnormalities. Although the exact etiology is heterogeneous, genetic factors play a significant role, with several chromosomal regions and genetic mutations implicated in their pathogenesis. Early recognition of SHFM is important for timely evaluation, genetic counselling, planning functional and reconstructive interventions, and rehabilitation. In this report, we present a case of SHFM, outlining its clinical presentation and 
discussing the diagnostic and therapeutic considerations relevant to its management.