Insight into Apert Syndrome: Reporting on Six Patients and Increasing Awareness

Abstract

Apert syndrome (AS) is a rare autosomal dominant disorder characterized by various congenital malformations. In this study, we aimed to explore the clinical presentation of Apert syndrome to enhance awareness among multidisciplinary healthcare providers regarding its differential diagnosis through the phenotype/genotype characterization of six Egyptian patients with AS. We examined six patients with Apert syndrome: four females and two males (2:1), aged 3 to 7 years. Clinical examination, along with pedigree analysis, was followed by DNA extraction from the patients’ and their parents’ peripheral blood leukocytes for genomic screening of FGFR2 gene variations. Key findings in all patients included craniosynostosis and distinctive facial features such as midface hypoplasia, exophthalmos, hypertelorism, a beaked nose, a prominent forehead, and an underdeveloped upper jaw, along with syndactyly of the hands and feet. We identified oral anomalies such as cleft palate, bifid uvula, impacted teeth, delayed eruption, supernumerary teeth, and thick gingiva. Pathogenic variants of the FGFR2 gene were characterized in all six patients. This report presents the largest cohort of Apert syndrome among Egyptian patients. Raising awareness about AS, especially among various interdisciplinary teams, is essential for managing this rare condition and is crucial for accurate diagnosis and timely medical and surgical intervention. Proper diagnosis and genetic counseling are necessary for improving survival and preventing the recurrence of complications.