Apert Syndrome Presenting with Omphalocele

Abstract

Apert syndrome is a congenital acrocephalosyndactyly syndrome. It is mainly presented by craniosynostosis, syndactyly of the hands and feet and dysmorphic facial features. The condition has an autosomal dominant inheritance assigned to mutations in the Fibroblast Growth Factor Receptors (FGFR-2) gene. The reported case is a 9 months old boy with clinical suspicion of Apert syndrome as he had turricephaly, stubby hands with short fingers, omphalocele measuring 10 × 10 cm, bilateral undescended testes, Congenital Talipes Equinovarus (CTEV) and polydactyl and syndactyl of great and second toes. He was developmentally normal. The omphalocele was surgically repaired. Early diagnosis and intervention helps rehabilitation of patients with Apert syndrome and help them to lead a better life.

Keywords

• Apert Syndrome
• Acrocephalosyndactyly
• Craniosynostosis
• Omphalocele