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DiGeorge Syndrome is a genetic disorder caused by a small deletion of genetic material on chromosome 22. This deletion affects the development of several body systems, resulting in heart defects, immune system problems, and low calcium levels.
read more about digeorge syndrome ...The cause is the deletion of genetic material on chromosome 22. This specific deletion leads to poor development of the structures that arise from the third and fourth pharyngeal pouches during foetal development, including the thymus gland (T-cell production) and parathyroid glands (calcium regulation).
This lack of development results in a compromised immune system and an inability to regulate calcium. The severity of the resulting heart and immune defects is highly variable among patients.
Symptoms define a variety of system failures. They include heart defects (often present at birth), poor immune function (recurrent infections), hypocalcemia (low blood calcium), developmental delays, and characteristic facial features. The symptoms may be identified immediately after birth due to cardiac or calcium problems, or later in childhood, depending on the severity of the immune deficit.
DiGeorge Syndrome directly impacts eye health, as ocular defects are common congenital features. Patients may have strabismus (eye misalignment), cataracts, small or misshapen eyes, and a higher incidence of infections, such as persistent conjunctivitis. These visual defects require early screening and intervention by an ophthalmologist.
The thymus gland is either absent or underdeveloped. Since the thymus is needed for the maturation of T-cells (a type of immune cell), poor thymus function leads to a compromised immune system and increased susceptibility to severe infections. In severe cases, a thymus transplant is needed to restore immune competence.
Necessary treatments focus on stabilizing calcium levels and correcting heart defects. Calcium supplements are needed for hypocalcemia. Immunological problems are managed with intensive infection control and, in severe cases, a thymus transplant.
No, DiGeorge Syndrome is a rare congenital disorder.
The deletion occurs spontaneously in most cases, but in about 25 percent of cases, it is inherited from a parent.
Immune function often improves over time, but many individuals require lifelong monitoring for infections.
Consult a specialist for the "CATCH-22" symptoms: Cardiac defects, Abnormal faces, Thymic hypoplasia, Cleft palate, and Hypocalcemia. Children with DiGeorge often have "Ocular Hypertelorism" (widely spaced eyes). Early genetic counseling is critical for families to understand the risks of recurrence.
Children's Hospital of Philadelphia. 22q11.2 Deletion (chop.edu). 2024.
Mayo Clinic. DiGeorge Syndrome (mayoclinic.org). 2024.
NIH. DiGeorge Syndrome Information (ninds.nih.gov). 2024.
StatPearls. DiGeorge Syndrome (ncbi.nlm.nih.gov). 2024.