DiGeorge Syndrome
Pronunciation: dee-ZHORZH
A genetic disorder caused by 22q11.2 deletion, commonly associated with conotruncal heart defects, thymic hypoplasia, and characteristic facial features.
Full Definition
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is the most common microdeletion syndrome in humans, affecting approximately 1 in 4,000 live births. The condition results from a hemizygous deletion on chromosome 22 and is characterized by a constellation of features including congenital heart defects (particularly conotruncal anomalies), thymic hypoplasia leading to immunodeficiency, parathyroid dysfunction causing hypocalcemia, and distinctive facial features. Cardiac manifestations include tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. The syndrome demonstrates variable expressivity, and some individuals may have only cardiac involvement without other classic features.
Usage
Usage note: Preferred term over velocardiofacial syndrome in cardiac contexts.
In Context
- "Genetic testing confirmed DiGeorge syndrome in the infant with tetralogy of Fallot and neonatal hypocalcemia." — Genetics consultation
- "The cardiac team coordinated with immunology for perioperative management of the DiGeorge syndrome patient." — Multidisciplinary care plan