Causes And Complications Linked To DiGeorge Syndrome

DiGeorge syndrome is one of several disorders caused by a broader condition called 22q11.2 deletion syndrome. It occurs when a portion of the chromosome 22 doesn't exist. The deletion leads to poor development of multiple systems in the body. In the past, multiple disorders now covered under the 22q11.2 deletion umbrella were thought to be separate conditions. These include DiGeorge syndrome, velocardiofacial syndrome, plus any other conditions caused by the same genetic factors. Associated medical problems include complications due to low calcium levels in the blood, delayed cognitive development, emotional and behavioral problems, a cleft palate, heart defects, and poor functioning of the immune system.

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Genes And Chromosome 22

DiGeorge Syndrome is associated with genes and chromosome 22. Humans typically have 46 chromosomes made up of twenty-three pairs, one copy coming from each parent. Chromosome 22 represents about one and a half to two percent of the DNA found in people's cells, and it's the second-smallest chromosome in humans. With DiGeorge syndrome and other conditions under the 22q11.2 deletion syndrome umbrella, a small portion of the chromosome is deleted around the middle of the sequence. The location of the deletion has been designated q11.2. Patients with the disorder are missing around three million base pairs on one of their chromosome 22 copies. Researchers haven't yet isolated every single gene that contributes to the symptoms in DiGeorge syndrome. The loss of the gene TBX1 might be responsible for hearing loss, low calcium levels, distinctive facial features, a cleft palate, and heart defects. The loss of the gene COMT might cause mental illness and behavioral issues.

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Hypoparathyroidism

Hypoparathyroidism is a common complication of DiGeorge syndrome. There are four parathyroid glands located in the neck, and these glands are responsible for the regulation of phosphorous and calcium throughout the body. DiGeorge syndrome patients may have smaller than average parathyroid glands that don't create enough parathyroid hormone, which causes a thyroid dysfunction called hypoparathyroidism. The condition causes phosphorous levels to be too high and calcium levels to be too low. If an individual's calcium levels are too low for a long time, they might develop symptoms including coarse hair, brittle nails, dry and scaly skin, and muscle cramps in the legs and back. If the condition isn't treated, symptoms might progress to neurological issues like hallucinations, depression, delirium, memory loss, and confusion.

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Cleft Palate

A cleft palate is also common with DiGeorge syndrome. Cleft palates involve an abnormal opening found in the roof of an individual's mouth. There might be a cleft lip as well, but this doesn't always occur. There may also be other palate abnormalities that, while less immediately visible, can make it difficult to pronounce certain sounds or swallow. The cleft palate might occur alongside distinctive facial features like small and low-set ears, hooded eyes, an enlarged nose tip, or a short groove inset into the upper lip. Cleft palates occur when developing facial structures don't completely close prior to birth. Most babies can undergo several surgeries to have a relatively normal appearance and function restored.

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Heart Defects

There are a number of heart defects related to DiGeorge syndrome that can cause an insufficient supply of properly oxygenated blood. One defect might involve a hole between the heart's lower chambers, otherwise known as a ventricular septal defect. There may also be one large vessel that leads out of the heart instead of two, which leads to improper blood flow throughout the body. It's also possible patients will have a combination of four abnormal structures in the heart. In addition to heart defects, there may be other abnormalities of the cardiovascular system found in the aortic arch, semilunar valves, infundibular septum, and pulmonary arteries. These abnormalities can make surgical correction complicated.

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Increased Risk Of Autoimmune Disorders

Individuals with DiGeorge syndrome might have a higher risk of developing autoimmune disorders, particularly in cases where the immune system had poor functioning during childhood. Poor immune function tends to be related to problems with the thymus gland. This gland is found under the breastbone. It's the place a certain kind of white blood cell called the T-cell matures. In DiGeorge syndrome patients, there may be a missing thymus gland or underdeveloped thymus gland. This causes an insufficient number of T-cells to mature. Since these cells are necessary to fight infections, children have an impaired immune system and may experience frequent and severe infections. As they get older, this compromised immune function increases the chances of developing Graves' disease, rheumatoid arthritis, or other conditions where the immune system mistakenly attacks the body.