DiGeorge Syndrome

What is DiGeorge Syndrome?

DiGeorge syndrome is also known as velocardiofacial syndrome, conotruncal syndrome and several other names. It is a chromosomal disorder and it affects the twenty second chromosome at the q11.2 location. It affects as many as 1 in 4000 people but it is believed that many cases are misdiagnosed or under-diagnosed.

It becomes noticeable at birth and causes poor development of several body systems connected to the deletion of the gene. This missing piece of chromosome can result in cleft palate, behavioral problems, learning difficulties, weak immune system and heart defects.

Signs

Some of the signs of DiGeorge syndrome are a palate disorders, including cleft palate, behavioral problems like ADHD, autoimmune diseases like anemia and arthritis and thyroid disease, and abnormalities of the thymus gland. Even psychiatric disorders like schizophrenia could be a sign that someone has DiGeorge syndrome.

What are the Symptoms of DiGeorge Syndrome?

Symptoms include spasms in the mouth, throat, arm, or hand, respiratory problems, infections, delayed growth and poor muscle tone,  seizures, hyperparathyroidism, and other developmental delays like speech or learning. Other symptoms might include pulmonary stenosis, ventricular septal defect, over-riding-aorta, glue ear, dysphagia.

The organs that are affected by DiGeorge syndrome influence the symptoms that are apparent and that is why there is a great deal of variability.

DiGeorge Syndrome Causes

DiGeorge syndrome is a disorder caused by deletions of the segments in either of the two copies of a person’s chromosome 22, which affects around 30 to 40 genes. Many of these genes are still being studied by the scientific community. The essential developing DiGeorge syndrome is random as it occurs at some point during the fertilization of an embryo or on occasion during early stages of fetal development. In more common cases, DiGeorge syndrome is not really an inherited disorder, with many of those afflicted with DiGeorge syndrome not having a tangible familial history of the disease. However, it can be passed from an affected parent to their child. This only occurs in around 10% of DiGeorge syndrome cases.

The results of a baby developing DiGeorge syndrome include a wide variety of problems including specific facial features, congenital heart problems, frequent infections, developmental delay, learning problems, and cleft palates. Some conditions that are also associated with DiGeorge syndrome include hearing loss, kidney problems, and autoimmune disorders like Graves’ disease.

How is DiGeorge Syndrome Treated?

The type of treatment recommended for DiGeorge syndrome depends on what organs are affected. Usually, many members of the health care system will be consulted. This can include cardiologists, immunologists, endocrinologists, therapists, geneticists, pediatricians, and surgeons.

Treatment includes

Surgery can be a common recommendation to overcome some of the malformations but doctors also need to include medications or therapy in the treatment plan. As mentioned, the kind of treatment is largely dependent on which organs have been affected by DiGeorge syndrome.

There is no way to prevent the mutation since the defect is already carried by the egg or sperm during conception.

DiGeorge Syndrome Prevention

There is no current known way to prevent DiGeorge Syndrome; however doctors do recommend that patients manage conditions that are associated with the diseases by doing things like thoroughly washing their hands with disinfectant soap and water. It is also recommended that patients and parents speak with their doctors about specific immunizations and actively avoid contact with those suffering from infectious diseases. Genetic screening is recommended as the counselor can provide information on DiGeorge syndrome as well as answering questions about the potential of passing DiGeorge syndrome onto their children. No cure for DiGeorge syndrome currently exists. However, doctors do recommend that patients manage their underactive parathyroid gland with calcium and vitamin D and boost their immune systems bone marrow transplants. One controversial treatment involves Early thymus transplantations, though they are considered unsafe and only nominally effective.