Apert’s Syndrome: A Rare Case Report

Abstract

Background: Apert syndrome is a genetic disorder inherited in an autosomal dominant manner, with an occurrence rate of about 15 cases per 100,000 live births. It is caused by a mutation in the fibroblast growth factor receptor-2 (FGFR-2) gene located on chromosome 10q26. The condition mainly impacts the first and second branchial arches, leading to the early closure of cranial sutures (craniosynostosis) with fusion of fingers and toes of the hands and feet. Apert syndrome is rare in India, and a case report is presented.

Clinical Description: 21 months female toddler presented with global developmental delay along with distinctive craniofacial features. Clinically toddler exhibited an abnormal head shape and contour, characterized by turribrachycephaly, a depressed nasal bridge, frontal bossing, midface hypoplasia, and a characteristic “crossbow” appearance of the upper lip. Limb examination revealed symmetrical soft tissue syndactyly affecting all digits.

Management & Outcome: This case is notable for its rarity and the similarity of its features to other craniosynostosis syndromes, such as Crouzon and Pfeiffer syndromes, posing a diagnostic challenge. Therefore, genetic counselling for the family was recommended, along with early intervention for the child, including plastic surgery for the affected limbs.

Conclusion: Acrocephalosyndactyly is an autosomal dominant condition seen rarely, marked by craniosynostosis, craniofacial deformities, and pronounced symmetrical clubbing of fingers and toes of the hands and feet. In the majority of Apert syndrome cases, the condition occurs sporadically, often due to new mutations in the relevant gene.