Craniofacial anomalies (CFAs) are congenital abnormalities in the bone or soft tissue of the face or head (Richards, 1994; World Health Organization [WHO], 2002). CFAs comprise a wide range of heterogeneous conditions with many associated syndromes. Some CFAs and their associated syndromes are relatively common, such as cleft lip with or without cleft palate, with an estimated prevalence of 1 in 600 newborn babies (WHO, 2002). Others are more rare, such as Crouzon syndrome, which results in flattening of the back and top of the head, shallow eye sockets, retrusion (concavity) of the middle face, and protrusion of the lower jaw and has an estimated prevalence of 0.2 per 10,000 births (WHO, 2002). This chapter provides a synopsis of the probable causes of craniofacial anomalies, the related psychoeducational and medical outcomes, and the various treatment options.In some cases, labeled syndromes are defined by and consist of CFAs; in others, syndromes comprise signs and symptoms in addition to CFAs. A given CFA typically is associated with at least several, and sometimes many, syndromes. As a case in point, about 350 different syndromes are associated with facial clefts (Shpritzen & Goldberg, 1995).
OVERVIEWChromosomal disorders, teratogens, and prenatal mechanical stresses can produce CFAs and the syndromes associated with them, although the 57