Apert syndrome

Definition

Apert syndrome is a syndromic craniosynostosis associated with mutations in the FGFR2 gene and characterised by premature closure of coronal suture and a later onset of pansynostosis. Pathognomonic is an osseous and membranous syndactyly of at least Digitus II-IV (fingers and toes). High incidence of midface hypoplasia with orbital and facial stenosis, cleft palate, vertebral fusion. Mental deficits in 30%.

Index Terms