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 |
