DIGEORGE SYNDROME

Course overview

DIGEORGE SYNDROME (DGS) IS A CONGENITAL DISORDER WITH A BROAD PHENOTYPIC PRESENTATION, WHICH RESULTS PREDOMINANTLY FROM THE MICRODELETION OF CHROMOSOME 22 AT A LOCATION KNOWN AS 22Q11.2. THIS MUTATION RESULTS IN THE FAILURE OF APPROPRIATE DEVELOPMENT OF THE PHARYNGEAL POUCHES, WHICH ARE RESPONSIBLE FOR THE EMBRYOLOGIC DEVELOPMENT OF THE MIDDLE AND EXTERNAL EAR, MAXILLA, MANDIBLE, PALATINE TONSILS, THYROID, PARATHYROIDS, THYMUS, AORTIC ARCH, AND CARDIAC OUTFLOW TRACT. FEATURES OF DGS INCLUDE CARDIAC ANOMALIES, RECURRENT INFECTIONS, ABNORMAL FACIES, THYMIC HYPOPLASIA OR APLASIA, CLEFT PALATE, DEVELOPMENTAL DELAY, AND HYPOCALCEMIA. THIS ACTIVITY OUTLINES THE DIAGNOSIS, EVALUATION, TREATMENT, AND MANAGEMENT OF PATIENTS WITH DGS, AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN MANAGING PATIENTS WITH THIS CONDITION.