Contemporary Management of the Upper Limb in Apert Syndrome: A Review

Abstract

Background: Apert syndrome is a relatively rare genetic disorder with a constellation of distinct craniofacial deformities and bilateral syndactyly of the hands and feet. Although the literature contains ample evidence for the need to treat cranial, midfacial, and hand abnormalities, there are severe shortcomings in the literature when attempting to describe the pathology and management of the entire upper limb in patients with Apert syndrome. Methods: A thorough literature search was performed using PubMed, Scopus, Web of Science, and Google Scholar, on the management of the upper extremity in Apert syndrome, including the shoulder, elbow, and hand. Results: Our findings of the literature discuss the clinical presentation and management trends of the upper extremity in patients with Apert syndrome. Through multicenter collaboration, discussion among experts in the field, and evidence gathered from the literature, we propose treatment algorithms to treat deformities of the hand, shoulder, and elbow in patients with Apert syndrome. Conclusions: This review identifies that even if hand pathologies have been correctly treated, shoulder and elbow abnormalities in patients with Apert syndrome are largely ignored. To optimize outcomes, added cognizance of additional upper limb congenital differences and their management should be highly advocated in this patient population.