Complete DiGeorge Syndrome

What is complete DiGeorge syndrome?

Complete DiGeorge syndrome occurs when there is no detectable thymus, which is a gland on the top of the heart that produces T cells. This means that affected individuals are very susceptible to infection.

What are the symptoms of complete DiGeorge syndrome?

The main symptom of this condition is a vulnerability to fungal, viral, and bacterial infections. Each infection can bring its own symptoms. Other symptoms include hypoparathyroidism, congenital heart defects, and softening of the tissue of the voice box.

What causes complete DiGeorge syndrome?

There are multiple causes of this condition. In some cases, complete DiGeorge syndrome is part of a larger condition called chromosome 22q11.2 deletion syndrome, also known as CHARGE syndrome. Medical professionals have also seen that children born to diabetic mothers can have an underdeveloped thymus, although they have not found direct causation. A very low number of affected individuals cannot find a cause of their condition.

How is complete DiGeorge syndrome diagnosed?

Doctors will look for characteristic symptoms, look at family and medical history, and conduct a clinical evaluation. Flow cytometry may also be used. Some states include complete DiGeorge syndrome in their newborn screening, so a diagnosis is obtained right at birth.

What are the treatments for complete DiGeorge syndrome?

A team of specialists may be necessary to best treat this condition. Preventing infections is important, as is prompt treatment. This should be done until an affected individual can receive a cultured thymus tissue transplant. Heart defects and hypoparathyroidism should be treated by specialists as well.

Where can I find out more about complete DiGeorge syndrome?