DIGEORGE SYNDROME

DiGeorge syndrome is a hereditary condition that impacts many organs. These issues commonly manifest after a child’s birth or early life, including heart abnormalities, a weakened immune system, and developmental problems. Most persons with DiGeorge syndrome lack a tiny portion of chromosome 22 known as 22q11.2. DiGeorge syndrome is a kind of primary immunodeficiency (PIDD) and a hereditary disease that wreaks havoc on the immune response. This syndrome can cause problems ranging from minor to life-threatening.

Moreover, DiGeorge syndrome is caused by aberrant tissue formation throughout a child’s growth. This congenital impairment most commonly develops when a tiny chromosome 22 is missing. The damaged region of chromosome 22 contains hundreds of genes involved in developing many bodily systems. Relevant organs and procedures do not grow correctly when a portion of this chromosome is absent.

SYMPTOMS

Persons with DiGeorge syndrome may have no signs at all in rare circumstances. However, some have hooded eyes, cheek flatness, a pronounced bulbous nasal tip, or an undeveloped chin.

This condition signs may also include:

  • Trouble breathing
  • Academic and behavior issues, which are developmental disabilities
  • Heart problems
  • Hypocalcemia can result in a seizure condition.
  • Increasing infections and pneumonia, which are caused by a decrease in T-lymphocyte activity in the immune system
  • Abnormalities in the kidney

DIAGNOSIS

Signs and symptoms of DiGeorge syndrome are frequently visible at delivery. However, they may order more testing if they see concerns such as convulsions, unusual facial traits, or low calcium levels in blood tests.

To identify DiGeorge syndrome, your physician will utilize your family medical record, as well as the following tests:

  • Genetic testing involves studying a sample of blood or tissues to look for defective genes. Imaging examinations, such as X-rays and CT scans, provide pictures of the inside of the body.
  • Physical examination: Doctors look for anomalies in the eyes, joints, ears, and face.

TREATMENT

The individual’s symptoms determine medication for DiGeorge syndrome. Healthcare practitioners manage the effects of the symptoms of the syndrome. Therapies to treat symptoms and improve disorder-related traits may also include:

  • Antibiotics, which are used to treat infections
  • Calcium administration, which is used to address calcium deficiency
  • Occupational therapies in order to help with developmental and behavioral disorders
  • Physical treatment to increase endurance and mobility
  • Restoration of hormones, such as parathyroid, thyroid, and growth hormone
  • Surgery to repair a heart problem, cleft palate, or nasal speaking

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