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DiGeorge syndrome

DiGeorge syndrome: Introduction

DiGeorge syndrome is a genetic, congenital disorder that is present at birth. DiGeorge syndrome affects the endocrine system and includes a wide variety of symptoms and features that differ greatly in severity and character between individuals. Common manifestations of DiGeorge syndrome include heart defects, immune system dysfunction and abnormal facial features.

DiGeorge syndrome is rare and is caused by an abnormality of chromosome 22, resulting in a lack of certain genes. This produces a typical group of problems that frequently occur together in DiGeorge syndrome. These include an underactive parathyroid gland (hypoparathyroidism), an underdeveloped or missing thymus gland (hypoplastic thymus), heart defects, and cleft palate and/or cleft lip.

It is not understood why many people with DiGeorge syndrome develop the abnormality of chromosome 22, and DiGeorge syndrome is often considered a random occurrence. In a small percentage of people, the defect is inherited. DiGeorge syndrome is similar to and related to another genetic disease called velo-cardio-facial-syndrome (VCFS).

Symptoms of DiGeorge syndrome vary depending on the specific genes that are missing. Symptoms are generally related to the effects of an underactive parathyroid gland (hypoparathyroidism), which causes low calcium levels in the body, and a hypoplastic thymus, which causes immune system dysfunction. Complications of DiGeorge syndrome can be severe and life-threatening and include critical heart defects and recurrent infections. For more details on symptoms and complications, refer to symptoms of DiGeorge syndrome.

In some cases making a diagnosis of DiGeorge syndrome may begin during the prenatal period. This includes taking a thorough medical and family history of the pregnant woman, and completing a physical examination and routine prenatal care. For some women, such as those with a family history of DiGeorge syndrome or velo-cardio-facial-syndrome, a diagnostic molecular test called FISH may be performed. This test is performed on amniotic fluid taken during an amniocentesis in early pregnancy.

Making a diagnosis of DiGeorge syndrome in an infant or child includes taking a thorough medical, prenatal, and family history, including symptoms, and completing a physical examination. FISH testing is performed on the infant's or child's blood and other tests are performed to evaluate overall health and the functioning of the immune system and the heart.

It is possible that a diagnosis of DiGeorge syndrome can be missed or delayed because symptoms can mimic symptoms of other diseases and for a variety of other reasons. For more information on misdiagnosis, refer to misdiagnosis of DiGeorge syndrome.

Treatment of DiGeorge syndrome varies depending on the severity of the disease, the presence of complications and other factors. Treatment can be complex and children with DiGeorge syndrome generally need ongoing care and monitoring by a variety of specialists. For more information on treatment, refer to treatment of DiGeorge syndrome....more »

Causes of DiGeorge syndrome

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