DiGeorge Syndrome

What is DiGeorge syndrome?

DiGeorge syndrome is chromosomal abnormality caused by a deletion in chromosome 22. As a result, serious developmental abnormalities occur in the fetus affecting a number of organ systems. It is common for patient’s with DiGeorge syndrome to develop bipolar and schizophrenic disorders in adulthood.

What are the signs and symptoms of DiGeorge syndrome?

Facial anomalies include:
• small mouth;
• prominent nose with a large tip and small nostrils;
• puffiness around the eyes;
• small head (microcephalus);
• small misshaped ears; and
• cleft lip or cleft palate.

Other signs and symptoms include:
• underdeveloped or absent thymus gland;
• underactive parathyroid gland (causes low blood calcium levels);
• congenital heart defects (including tetralogy of Fallot, ventricular septal defects, vascular rings or an interrupted aortic arch);
• velo-cardio-facial syndrome;
• hearing loss;
• malformed or absent kidney;
• frequent infections; and
• mild to moderate mental retardation.

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