DiGeorge syndrome

DiGeorge syndrome (22q11.2 deletion syndrome), a disorder caused by a defect in chromosome 22, results in the poor development of several body systems.
The syndrome was described in 1968 by the pediatric endocrinologist Angelo DiGeorge

Medical problems commonly associated with DiGeorge syndrome include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood and behavioral disorders.


The number and severity of problems associated with DiGeorge syndrome vary greatly. Almost everyone with DiGeorge syndrome needs treatment from specialists in a variety of fields.

If your child has any of the following signs and symptoms or may include some combination of the following, seek immediate medical care

• Bluish skin due to poor circulation of oxygen-rich blood (cyanosis)
• Weakness or tiring easily
• Failure to thrive
• Failure to gain weight
• Poor muscle tone
• Shortness of breath
• Twitching or spasms around the mouth, hands, arms or throat (tetany)
• Frequent infections
• Difficulty feeding
• Delayed development, such as delays in rolling over, sitting up or other infant milestones
• Delayed speech development
• Learning delays or difficulties
• A gap in the roof of the mouth (cleft palate) or other problems with the palate
• Certain facial features, such as low-set ears, wide-set eyes or a narrow groove in the upper lip

There is no cure for 22q11.2 deletion syndrome. Certain individual features are treatable using standard treatments. The key is to identify each of the associated features and manage each using the best available treatments. For example, in children it is important that the immune problems are identified early as special precautions are required regarding blood transfusion and immunisation with live vaccines. Thymus transplantation can be used to address absence of the thymus in the rare, so-called "complete" DiGeorge syndrome. Bacterial infections are treated with antibiotics. Cardiac surgery is often required for congenital heart abnormalities. Hypoparathyroidism causing hypocalcaemia often requires lifelong vitamin D and calcium supplements.