DiGeorge Syndrome / Velocardiofacial Syndrome Complex 2 (DSG2)

1. Causes of the disease

DSG2, commonly known as DiGeorge syndrome, is a genetic disorder caused by the deletion of genetic material in the q11.2 region of chromosome 22. This deletion results in a wide range of symptoms due to missing genes that affect development, the immune system and internal organs.

2. Symptoms

• Immunodeficiency : The number of T cells may be low, reducing immunity to infections.
• Heart abnormalities : Congenital heart disease is common and may require heart surgery.
• Facial abnormalities : Peculiar facial features may be observed.
• Developmental delays and learning disabilities : There may be delays in language, movement, and learning.
• Internal organ abnormalities : Gastrointestinal and renal abnormalities may be seen.

3. Treatment

• Immune management : Management of a weakened immune system may involve antibiotics and immune supportive therapy.
• Heart surgery : If you have congenital heart disease, you will need surgery.
• Developmental Support : Support is provided through speech, physical and occupational therapy.

4. Prognosis

Early and appropriate medical support can improve the quality of life of patients, but prognosis varies depending on the severity of the symptoms. Immune and cardiac management are important.

5. The burden on parents

Medical expenses and care costs can often be a big burden on parents, both mentally and physically. It is important to work with medical institutions and support groups to receive support.