DiGeorge syndrome is a rare genetic disease present at birth and is associated with recurrent infection, heart defects, and characteristic facial features (see below). People with complete DiGeorge syndrome have no thymus or parathyroid glands.

Thyroid and Parathyroid Glands

thyroid gland small image Thyroid parathyroid gland (small image)
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DiGeorge syndrome is caused by a deletion of several genes from chromosome 22. Genes are blueprints for the body's development. The material lost in the deletion is required for the normal development of the thymus and related glands.

Risk Factors

A risk factor is something that increases your chance of getting a disease or condition. Maternal diabetes is thought to increase the risk of DiGeorge syndrome.


Features of DiGeorge syndrome are present at birth and do not worsen with age. Features may include:

  • Immune deficiency leading to increased infections
  • Cleft palate
  • Heart defects
  • Failure-to-thrive
  • Small head
  • Increased incidence of psychiatric disorders
  • Characteristic facial features, including elongated face, almond-shaped eyes, wide nose, small ears
  • Learning difficulties
  • Hypoparathyroidism —a disorder in which insufficient parathyroid hormone is secreted from the parathyroid glands, resulting in abnormally low levels of calcium in the blood
  • Weak muscles
  • Short height
  • Occasional abnormalities include structural brain defects, scoliosis , umbilical or inguinal hernias , kidney abnormalities, anogenital abnormalities, eye abnormalities, and thyroid problems
  • Tapered and hyperextensible fingers


Your doctor will ask about symptoms and medical history, and perform a physical exam. Other tests may include:

  • Blood tests—to rule out other conditions, detect parathyroid hormone levels, and discover immune problems
  • Genetic tests—to look for deletions in chromosome 22
  • Chest x-ray —a test that uses radiation to take pictures of structures inside the body, especially to determine if the thymus is present


Talk with your doctor about the best treatment plan. In infants, thymic tissue transplantation or bone marrow transplantation may help restore immune function, but the risks and benefits of these procedures must be carefully considered.


There is no known way to prevent DiGeorge syndrome.