A Review of Craniofacial Syndromes

Michelle D. Lingao1,2

1Department of Ophthalmology and Visual Sciences,
College of Medicine and Philippine General Hospital,
University of the Philippines Manila
2Asian Eye Institute, Makati City, Philippines

Craniosynostoses are a complex and heterogeneous group of conditions. The purpose of this review is to describe the entity of craniosynostosis and its associated genes along with the ophthalmic and systemic findings. Several genes such as FGFRs, TWIST1, and MSX2 are involved in both syndromic and non-syndromic craniosynostosis.

Key Words: craniosynostosis, craniofacial syndromes, craniosynostosis genes