Embryonic development of the head and face is a complex process occurring during the first trimester, involving interactions between components from all three germ layers, between neural tube formation and associated head and facial development and between multiple branchial/pharyngeal arch components. For these reasons, numerous abnormalities may occur depending on the site, timing and severity of any defects in these processes. However, the general types and mechanisms of such anomalies can be reasonably grouped together, and this chapter aims to provide a brief overview of the major components of facial development in association with clinically significant fetal abnormalities. In addition, the chapter will briefly describe the approach to investigation of such abnormalities at autopsy and major associated features. For those interested, there are excellent and highly detailed accounts available of these processes from an embryological perspective, documenting the mechanisms of cellular interactions during these processes and with experimental evidence for the developmental origins of the various components, which are beyond the scope of this chapter (Gray S and Skandalakis J, Embryology for surgeons. 2nd ed., Lippincott Williams and Wilkins, Baltimore, 1994; Moore KL et al., The developing human: clinically oriented embryology. 9th ed., Saunders, Philadelphia, 2012; Sadler TW, Langman’s medical embryology. 13th ed., Lippincott Williams and Wilkins, Philadelphia, 2014; Sperber G et al., Craniofacial embryogenetics and development. 2nd ed., PMPH, Shelton, 2010).