Cleft Lip/Palate Links to Other Congenital Anomalies

Oral clefts are the most frequently-occurring birth defects in the United States, affecting 1 to 2 of every 1,000 births. There are a number of questions of scientific and clinical interest regarding these defects, such as the following: what are the associations between cleft lip and/or cleft palate and other congenital anomalies, such as club foot, ear defects, anencephaly (disrupted formation of the brain and skull), or coronary heart disease? Do these patterns indicate that cleft lips and palates result from different mechanisms, or from variable severities of the same phenomenon?

 A new study in The Cleft Palate–Craniofacial Journal analyzed more than 1,000 cases of newborns with multiple anomalies to differentiate between cleft lip and/or cleft palate and to determine their associations with other congenital anomalies. Six defects were found to be associated with cleft lip only. Three defects were associated with cleft palate only, including ear canal atresia and club foot. The study found that anencephaly had the greatest association with all cleft types, which probably reflects its disruptive character. Spina bifida and VATER (vertebral, ano-rectal, tracheo-esophageal, and renal) complex showed the most strongly negative associations with clefts of all types. The negative association be-tween clefts and neural tube defects invites further investigation. Coronary heart disease was the anomaly most often found in association with clefts, which is not surprising given that heart defects are the most common defect found in infants with multiple anomalies. Cleft lip and palate (CLP) is more likely to be associated with birth defects than cleft lip alone, which lends support to the notion that cleft lip and palate is a more severe presentation of the same anomaly; however, the patterns of specific defects associated with each condition indicate that different mechanisms and distinct pathways may be involved. Craniofacial defects involving the brain appear to be more associated with CLP, and cleft lip appears to be preferentially associated with ear deformities.