DiGeorge Syndrome can be characterized by a multitude of mildly abnormal facial features or internal organ defects, but the majority of these symptoms derive from the same small deletion of chromosomal information, chromosome 22. This congenital disorder is caused primarily by an abnormal migration and development of cells and tissue while the fetus is in the stages of growth and differentiation. There are a number of complications associated with DiGeorge Syndrome, also referred to as DGA, and the severity of these complications range from extremely mild to severe.
What are the symptoms of DiGeorge Syndrome?
DGA can affect patients in a number of ways, and subsequently symptoms may appear in different features. The most prominent of symptoms can be seen in patients’ faces. The most common are bluish skin tones due to poor circulation, cleft palate, low-set ears, wide-set eyes or heavy eyelids. Less obvious, but more severe, symptoms include cardiac (heart) defects involving the aorta, delayed speech development, learning delays, difficulty eating and failure to gain weight. Other symptoms revolve around abnormalities with the Thymus gland. These abnormalities result in a thymus that is reduced in size and produces fewer T-lymphocytes. These lymphocytes are responsible for the body’s resistance to certain viruses and fungal infections.
Treatments for DGA
As the complications from DGA range from mild to severe, the treatments range from relatively simple supplements and vaccines to complicated surgeries and therapy. The simplest treatments involve calcium supplements to replace missing hormones and a normal schedule of vaccines to prevent the recurrence of infection. Other low-level treatments include speech therapy and developmental therapy to learn appropriate behaviors, and interpersonal and social skills. More involved treatments can involve surgery to repair the heart and improve circulation. Other common surgeries to correct complications of DGA are cleft palate surgery, thymus surgery, and bone marrow and specialized disease-fighting cell transplants.
Sources:
DiGeorge Syndrome – Primary Immunodeficiency Disease: http://www.immunedisease.com/patients-and-families/about-pi/types-of-pi/digeorge-syndrome.html
DiGeorge Syndrome: http://www.mayoclinic.com/health/digeorge-syndrome/DS00998
DiGeorge Syndrome/DiGeorge Anomaly: http://emedicine.medscape.com/article/135711-overview