Craniofacial Anomalies

Abstract

Craniofacial anomalies (CFAs) are congenital abnormalities in the bone or soft tissue of the face or head and comprise a wide range of heterogeneous conditions with many associated syndromes. Some CFAs and their associated syndromes are relatively common, such as cleft lip without cleft palate, which has an estimated prevalence of 1 in 940 newborn babies.1 Others are rarer, such as Crouzon syndrome, which has an estimated prevalence of 16.5 per 1,000,000 births and results in the flattening of the back and top of the head, shallow eye sockets, retrusion (concavity) of the middle face and protrusion of the lower jaw.2 Patients born with a CFA often will present with multiple auxiliary syndromes associated with the initial CFA. For example, about 350 different syndromes are associated with facial clefts, including hypodontia, malocclusion and airway obstruction. Babies and children with CFAs will have difficulty eating (including regurgitation and aspiration), ear infections, hearing loss, permanent speech impediments, gross jaw deformities of various types and a broad range of dentalrelated challenges – all of which are justifications for unavoidable surgical management.