Term Name
DiGeorge syndrome
External Reference
Synonyms
22q deletion syndrome(s), DiGeorge syndrome, Di-George syndrome, DGS, DiGeorge anomaly, DiGeorge's syndrome, pharyngeal pouch syndrome, DGS1, DiGeorge syndrome type 1, 22q11.2 Deletion syndrome
Definition
A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.