Facilitating diagnosis, prognosis, and management: Distinguishing isolated and syndromic anomalies

Birth defects comprise a significant percentage of craniofacial abnormalities, particularly in infants and children. A patient in whom these anomalies represent part of a larger syndrome may have features, such as a congenital heart defect and a uro-genital malformation, which complicate pre- and post-operative management. Distinguishing isolated anomalies from syndromic anomalies is important. Appropriate diagnosis, referral, and prognosis is facilitated by examining specific parts of the body. The embryonic face develops coincident with the limbs, so their malformations can often be found concurrently. Two common considerations in dysmorpho-logic diagnosis are: 1) malformations of midline structures (brain, palate, heart, genitalia) tend to occur together; and 2) an underlying diagnosis may be present in a patient with two major or three minor anomalies. Presented herein are definitions of major and minor anomalies, and some of the syndromes in which they can be found. It is suggested that children with a craniofacial anomaly, isolated or syndromic, should be evaluated by a geneticist, and that patients with two or more major anomalies should have a chromosome analysis performed.