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DiGeorge Syndrome

What is DiGeorge Syndrome?

DiGeorge syndrome is a rare congenital disease characterized a history of recurrent infection, heart defects and unique facial features.

What Causes DiGeorge Syndrome?

DiGeorge syndrome is caused by a large deletion from chromosome 22. The deletion is a result of an an error in recombination at meiosis. Several genes from chromosome 22 are not present in DiGeorge syndrome patients.

Symptoms of DiGeorge Syndrome

The symptoms of DiGeorge syndrome vary greatly between individuals. Researches believe that the variation in the symptoms is related to the amount of genetic material lost in the chromosomal deletion. The more genetic material is lost, the greater the amount of symptoms.

Some common symptoms of DiGeorge syndrome are:

  • Speech impairments
  • Immune deficiency
  • Learning disabilities
  • Hypocalcemia
  • Recurrent infections
  • Underdeveloped thymus gland
  • Hypoparathyroidism
  • Lack of T-cells
  • Congenital heart disease
  • Heart murmur
  • Heart failure
  • Underdeveloped parathyroid glands
  • Underdeveloped chin
  • Downward slanting eyes
  • Convulsions

Treatment Options for DiGeorge Syndrome

The damaged chromosome cannot be repaired. Treatments are aimed to reduce symptoms and complications. Some common treatments are surgery for heart problems, and thymus cell transplants to restore the immune system.

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