Definition: Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.
Other names Velocardiofacial Syndrome; Velo Cardio Facial Syndrome; Thymic Aplasia Syndromes; Syndrome, Velocardiofacial; Syndrome, Velo-Cardio-Facial; Syndrome, DiGeorge; Pharyngeal Pouch Syndromes; Velo-Cardio-Facial Syndrome; Thymic Aplasia Syndrome; Third and Fourth Pharyngeal Pouch Syndrome; Pharyngeal Pouch Syndrome; Hypoplasia of Thymus and Parathyroids; Familial Third and Fourth Pharyngeal Pouch Syndrom; DiGeorge Sequence; DiGeorge Anomaly; Conotruncal Anomaly Face Syndrome
