D82.1: Di George syndrome

You have a congenital condition called DiGeorge syndrome.

The genes hold a complete blueprint of the body's structure. When development beings, this blueprint exists in every single cell in the body. With certain conditions, specific genetic elements are changed. These changes may be inherited from the parents or they may be new. Other family members may also be affected. With DiGeorge syndrome, genetic changes may cause certain organs to develop incorrectly, for example.

If the heart is affected, heart defects may occur. Depending on the heart defect, the symptoms can vary widely.

Moreover, the thymus gland may not develop properly. The thymus gland is a small organ which forms part of the immune system. The thymus gland lies below the neck and is partly surrounded by the lungs. Immune cells mature in the thymus gland. The thymus gland is at its largest in children and adolescents. Later in life, the thymus gland gradually shrinks since it is no longer required. If your thymus gland fails to develop properly, you can be more susceptible to pathogens. As a result you may be ill more frequently than usual.

The parathyroid glands may also not develop properly. The parathyroid glands are 4 small glands at the edge of the thyroid gland. The parathyroid glands produce a messenger substance that is important in bone metabolism. This messenger substance affects the calcium and phosphate content in the body. If your parathyroid glands fail to develop properly you may have too little calcium in your blood. This can cause muscle cramps, for example.

The condition is associated with typical facial features. The person usually tends to have a longish face, deep-set ears and a broad base to their nose. The person may also have a congenital cleft in their palate or lip. The palate is the roof of the mouth. The front of the palate consists of a bone plate, the hard palate. At the rear, the palate transitions into the soft palate. At the back of the palate, in the middle, hangs the uvula. To the side of this are the palatine arches. The face is another part of the body to develop in the womb before birth. First of all, several parts are created for the lips, the upper jaw and the palate. These individual parts then merge. If this process is disrupted at any point, then one or more clefts may remain in the lips, the upper jaw or the palate.

With this condition, the severity of the symptoms can vary greatly. Other symptoms are also possible.