Atypical Apert syndrome with mitten-hand deformity and mild neurodevelopmental delay: a case report highlighting phenotypic variability in a resource-limited setting

Abstract

Apert syndrome (AS) is a congenital disorder that is inherited in an autosomal dominant manner. It accounts for approximately 4.5% of all cases of craniosynostosis. This report describes a rare case of a three-year-old male who presented with classical features of AS, including complex syndactyly of the hands and feet, midface hypoplasia, and congenital speech difficulties. The child had macrocephaly at birth that resolved without surgical intervention. Despite the craniofacial abnormalities, the child exhibited normal hearing and vision. This case report highlights an atypical presentation of AS with spontaneous correction of cranial morphology and mild neurodevelopmental involvement. This underscores the clinical heterogeneity of AS and emphasizes the importance of functional assessment and genetic counselling, especially in sporadic cases. The phenotypic overlap with other craniosynostosis syndromes, such as Carpenter, Crouzon, Pfeiffer, and Saethre-Chotzen, remains a diagnostic challenge.