DiGeorge Syndrome

DiGeorge Syndrome

• Genetic disorder- maldevelopment of thymic epithelial elements, chromosone 22q11

• Features: congenital heart defects, hypocalaemia (tetany, failure parathyroid), absence of normal thymus -> absent T cells

• Presentation: facial abnormalities- hypertelorism, short sphitrum, micrognathia

Written 2024.