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The thymus gland is located behind the breastbone and is responsible for the maturation of T-cells to fight infections. The four parathyroid glands are located adjacent to the thyroid gland in the neck and regulate calcium in the blood through the production of parathyroid hormone.

What are the features of DiGeorge syndrome?

The following are the most common features of DiGeorge syndrome. However, not every child will have every feature of the syndrome and the severity of the features will vary between children.

Features may include:

  • Palatal abnormalities (such as cleft lip and/or palate)
  • Feeding difficulties
  • Conotruncal heart defects (e.g., tetralogy of Fallot, interrupted aortic arch, ventricular septal defects, vascular rings)
  • Hearing loss or abnormal ear exams
  • Genitourinary anomalies (absent or malformed kidney)
  • Hypocalcemia (low blood calcium levels)
  • Microcephaly (small head)
  • Mental retardation (usually borderline to mild)
  • IQs are generally in the 70 to 90 range
  • Psychiatric disorders in adults (e.g., schizophrenia, bipolar disorder)
  • Severe immunologic dysfunction (an immune system which does not work properly due to abnormal T-cells, causing frequent infections)
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Facial features of children with DiGeorge syndrome may include the following:

  • Small ears with squared upper ear
  • Hooded eyelids
  • Cleft lip and/or palate
  • Asymmetric crying facies
  • Small mouth, chin, and side areas of the nose tip

What Causes DiGeorge Syndrome?

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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

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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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