DiGeorge Syndrome is 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.
Parent Disease:
Diseases with this Risk Factor:
Associated medical specialties:
Also known as:
- Thymic hypoplasia,
- Conotruncal anomaly face syndrome,
- DiGeorge anomaly,
- VCFS,
- DiGeorge syndrome,
- Digeorge sequence,
- Velocardiofacial syndrome,
- Velo-cardio-facial syndrome,
- Strong syndrome,
- Congenital thymic aplasia,
- DGS,
- Shprintzen syndrome
