Definition:
DiGeorge Syndrome also known as 22q11.2 deletion syndrome, Velocardiofacial Syndrome and Strong Syndrome is a disorder known by total or partial absence or defective chromosome 22.
Diagnosis:
The immediate diagnosis of DiGeorge Syndrome is fluorescence in situ hybridization (FISH) during pregnancy to detect deletion of chromosome 22.
Treatment:
There is no treatment of this disease. But symptoms must require immediate treatment. A Life threatening hypocalcemia requires lifetime vitamin D supplements, immune problems must identify early and special precaution must provideto the patient who are required blood transfusion and immunization with passive vaccines. Thymus transpalantaion can also help patient with no thymus gland.
Symptoms and Signs:
Visible indications of this disorder is commonly seen during or shortly after Birth. It includes congenital heart defect, cleft palate, autism, abnormal immune response,learning difficulties, hearing loss, feeding problem may due to laryngotracheoesophageal anomalies, renal and skeletal abnormalities, hypoparathyroidism that leads to hypocalcemia and seizures (even if without hypocalcelmia).
Causes:
DiGeorge syndrome is probably caused by genetic deletion and abnormal development of the 3rd and 4rth pharyngeal pouches that affect the development of the thymus gland who is responsible in T lymphocytes development. As a result of impaired immune function.
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