Etiologic Mechanisms and Therapeutic Targets of Craniosynostosis

Craniosynostosis is a congenital craniofacial disorder characterized by premature fusion of one or more cranial sutures. Common complications in patients with severe craniosynostosis include increased intracranial pressure and neurocognitive dysfunction. Craniosynostosis can occur alone or in association with multiple syndromes. Different types of craniosynostosis are associated with specific gene mutations. In addition, epigenetic alterations and environmental factors are also thought to play an important role in the pathophysiology of craniosynostosis. This article reviews the research progress on the types, clinical manifestations, etiology and key molecular signaling pathways of craniosynostosis in recent years, and discusses the therapeutic targets developed in animal models, so as to provide a comprehensive and systematic understanding of the occurrence, development and treatment of craniosynostosis.