Apert's syndrome: A rare congenital disorder

Abstract

Apert's syndrome (acrocephalosyndactyly) is a developmental malformation characterized by craniosynostosis, syndactyly, and dysmorphic facial features. The purpose of this paper is to report a case of an 8-year-old child affected with Apert's syndrome with emphasis on the craniofacial and oral features. It demonstrates autosomal dominant inheritance and occurs due to point mutation of fibroblast growth factor receptor-2 gene in chromosome 10q25 and 10q26. The patient presented with brachydactyly, syndactyly, polydactyly, hypoplastic maxilla, and malalignment of teeth. The cases of Apert's syndrome can only be treated by multidisciplinary approach. Early diagnosis and proper counseling of families can help in better management.

Keywords

• acrocephalosyndactyly
• apert's syndrome craniosynostosis
• polydactyly