ETIOLOGY, SYMPTOMS AND TREATMENT OF APERT SYNDROME, A CONGENITAL DISORDER: AN OVERVIEW

Abstract

Apert syndrome is a genetic disorder characterized by the premature fusion of certain skull
bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the
shape of the head and face. In addition, a varied number of fingers and toes are fused together
(syndactyly).Many of the characteristic facial features of Apert syndrome result from the premature
fusion of the skull bones. The head is unable to grow normally, which leads to a sunken appearance
in the middle of the face, bulging and wide-set eyes, a beaked nose, and an underdeveloped upper
jaw leading to crowded teeth and other dental problems. Shallow eye sockets can cause vision
problems. Early fusion of the skull bones also affects the development of the brain, which can disrupt
intellectual development. Cognitive abilities in people with Apert syndrome range from normal to mild
or moderate intellectual disability.
Individuals with Apert syndrome have webbed or fused fingers and toes. The severity of the fusion
varies; at a minimum, three digits on each hand and foot are fused together. In the most severe
cases, all of the fingers and toes are fused. In the present article, we have concentrated on etiology,
causes, symptoms, pathophysiology and treatment of Apert syndrome.