DiGeorge syndrome

Question 1

What is DiGeorge syndrome

Answer 1

DiGeorge syndrome is a primary immunodeficiency disorder caused by T-cell deficiency and dysfunction. It is an example of a microdeletion syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22

While the symptoms can be variable, they often include congenital heart problems, specific facial features, frequent infections, developmental delay, learning problems and cleft palate.

Associated conditions include kidney problems, hearing loss and autoimmune disorders such as rheumatoid arthritis or Graves disease.

Question 2

Symptoms

Answer 2

CATCH - 22

C - Cardiac abnormality (commonly interrupted aortic arch, truncus arteriosus and tetralogy of Fallot)
A- Abnormal facies
T - Thymic aplasia
C - Cleft palate
H - Hypocalcemia/hypoparathyroidism