ABSTRACT

Birth defects represent a major pediatric health issue. One in every 30 infants is born with some form of birth defect, and half of all pediatric hospital admissions are related to medical management and treatment of birth defects. Many of the known birth defect syndromes present serious craniofacial malformations requiring surgical intervention to restore normal function to the facial and oral structures. The aim of this chapter is to introduce the reader to some of the common birth defects and syndromes encountered in the craniofacial clinic population. Many birth defects have a hereditary component; thus, referral to genetic services for medical management and genetic counseling remains part of the standard of care for the patient and family.