VELOCARDIOFACIAL SYNDROME

Course overview

VELOCARDIOFACIAL SYNDROME, ALSO KNOWN AS DI GEORGE SYNDROME OR CHROMOSOME 22Q11.2 SYNDROME, IS THE MOST COMMON MICRODELETION SYNDROME IN HUMANS. THOUGH THERE ARE A VARIETY OF PRESENTATIONS AND PHENOTYPES OF VELOCARDIOFACIAL SYNDROME, A LONG NARROW FACE WITH A TUBULAR NOSE, THIN PALPEBRAL FISSURES, AND A SMALL MOUTH ARE PRESENT IN MORE THAN 90 PERCENT OF CASES. THE FOUR FEATURES THAT ARE MOST COMMONLY OBSERVED ARE DEVELOPMENTAL DELAY, CARDIAC ANOMALIES, PALATAL ANOMALIES, AND IMMUNE DEFICIENCY. SYMPTOMS AND PHENOTYPE CAN RANGE FROM MINIMAL TO SEVERE AND LIFE-THREATENING.THIS ACTIVITY DESCRIBES THE RISK FACTORS, EVALUATION, AND MANAGEMENT OF VELOCARDIOFACIAL SYNDROME AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN ENHANCING CARE DELIVERY FOR AFFECTED PATIENTS.