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DiGeorge Syndrome

  • DiGeorge Syndrome
    DiGeorge syndrome is a genetic disorder that's usually noticeable at birth. Children with the condition can have heart defects, learning difficulties, a cleft palate and potentially many other problems. In almost all cases, these symptoms and features result from a missing piece of chromosome – a genetic fault, or mutation, called 22q11 deletion.
  • DiGeorge Syndrome
    The features of this syndrome vary widely, even among members of the same family, and affect many parts of the body. Characteristic signs and symptoms may include birth defects such as congenital heart disease, defects in the palate, most commonly related to neuromuscular problems with closure (velopharyngeal insufficiency), learning disabilities, mild differences in facial features, and recurrent infections. Infections are common in children due to problems with the immune system's T-cell-mediated response that in some patients is due to an absent or hypoplastic thymus.
  • DiGeorge Syndrome
    No cure is known for 22q11.2 deletion syndrome. Certain individual features are treatable using standard treatments. The key is to identify each of the associated features and manage each using the best available treatments. For example, in children, it is important that the immune problems are identified early, as special precautions are required regarding blood transfusion and immunization with live vaccines. Thymus transplantation can be used to address absence of the thymus in the rare, so-called "complete" DiGeorge syndrome. Bacterial infections are treated with antibiotics. Cardiac surgery is often required for congenital heart abnormalities. Hypoparathyroidism causing hypocalcaemia often requires lifelong vitamin D and calcium supplements.
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