International Journal of Obstetrics, Perinatal and Neonatal Nursing
Apert Syndrome: A Critical Overview
Abstract
Apert syndrome is a rare genetic disorder characterized by craniosynostosis, midfacial malformation and symmetrical syndactyly. Incidence rate in India is one in 70,000 live births. The Apert syndrome significantly increases with paternal age. Apert syndrome is caused by a mutation of FGFR2 (fibroblast growth factor receptor 2). Clinical features of Apert syndrome are tall skull and high prominent forehead, underdeveloped upper jaw, eyes look prominent and bulge out and there will be wide space between the eyes, nose looks small and fusion of upper and lower extremity fingers. Compare to normal children, Apert syndrome children show slower cognitive development due to the abnormal growth of the skull. Apert syndrome is classified based on the clinical manifestations. Genetic testing is one of the definitive diagnostic tools to rule out Apert syndrome. Release of skull bone fusion, midface advancement and correction of wide-set eyes are the surgical management of Apert syndrome. Many clinical features are observed as unexplainable and thus definitive treatment for Apert syndrome still doesn’t exist.References (10)
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