DiGeorge Syndrome

DiGeorge syndrome is a rare genetic disease. It is present at birth. People with complete DiGeorge syndrome have no thymus or parathyroid glands. The thymus plays an important role in the immune system. The parathyroid glands help control calcium in the blood and body.

  • Causes

    DiGeorge syndrome is caused by a deletion of several genes. The lost genetic material controls the development of the thymus and related glands.

  • Definition

    DiGeorge syndrome is a rare genetic disease. It is present at birth. People with complete DiGeorge syndrome have no thymus or parathyroid glands. The thymus plays an important role in the immune system. The parathyroid glands help control calcium in the blood and body.

    Thyroid and Parathyroid Glands
    thyroid gland small image
    Thyroid parathyroid gland (small image)
    Copyright © Nucleus Medical Media, Inc.

  • Diagnosis

    Your doctor will ask about symptoms and medical history. A physical exam will be done. If your child has certain heart defects or other DiGeorge related symptoms, genetic tests may be ordered.

    Your child's bodily fluids may be tested. This can be done with blood tests.

    Images may be taken of your child's bodily structures. This can be done with:

    • Chest x-ray
    • MRI
    • Echocardiography

  • Prevention

    There is no known way to prevent DiGeorge syndrome.

  • Risk Factors

    DiGeorge may run in some families but most have no family connection.

  • Symptoms

    Physical features of DiGeorge are present at birth. These features do not worsen with age. They may include:

    • Elongated face
    • Hooded eyelid
    • Small eyes
    • Small jaw
    • Wide nose
    • Small
      ears
    • Small head
    • Cleft palate

    Other symptoms may include:

    • Weak muscles
    • Short height
    • Tapered and hyperextensible fingers
    • Learning difficulties

    DiGeorge may also be associated with other health issues such as:

    • Immune deficiency leading to increased infections
    • Heart defects
    • Growth and developmental delays
    • Increased incidence of psychiatric disorders
    • Hypoparathyroidism—low levels of parathyroid hormone

    • Occasional abnormalities include structural brain defects,
      scoliosis, umbilical or inguinal
      hernias, kidney abnormalities, anogenital abnormalities, eye abnormalities, and thyroid problems

  • Treatment

    Treatment will be based on the symptoms your child has.
    Talk with your doctor about the best treatment plan. Some options include: