Other terms
Syndrome, DiGeorge,Hypoplasia of Thymus and Parathyroids,Velocardiofacial Syndrome,Syndrome, Velocardiofacial,Chromosome 22q11.2 Deletion Syndrome,Velo-Cardio-Facial Syndrome,Syndrome, Velo-Cardio-Facial,Velo Cardio Facial Syndrome
Description
DiGeorge Syndrome: Congenital syndrome characterized by a spectrum of malformations including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency and HYPOCALCEMIA. Other features include defects in the outflow tract of the HEART and craniofacial anomalies (velocardiofacial syndrome). Most cases result from a deletion of chromosome 22q11.2 or mutation in the TBX1 gene.
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