Velo-cardio-facial syndrome: a distinctive behavioral phenotype

Velo-cardio-facial syndrome (VCFS) is the most common contiguous gene disorder and one of the most common multiple anomaly syndromes in humans. Over 180 anomalies have been delineated in the syndrome; the most common of which are the behavioral manifestations. Learning disabilities, psychiatric illness, attention deficit disorder, and a variety of developmental disorders are nearly ubiquitous findings in VCFS and are not mutually exclusive, often overlapping to create a distinctive yet confusing phenotypic picture. In addition, standard treatments for each of these separate clinical findings may not be effective, and may even be potentially harmful in individuals with VCFS, such as the use of stimulants for hyperactivity. VCFS is caused by a small deletion of DNA from the long arm of chromosome 22. Researchers are currently studying the deletion located at 22q11.2 because of the possibility that a firm genetic link to psychiatric illness and learning disorders may be found. This report describes the behavioral manifestations of VCFS, emphasizing the overlap between the cognitive and psychiatric disorders that are so common in this syndrome. MRDD Research Reviews 2000;6:142-147.