DiGeorge Syndrome

(Velocardiofacial Syndrome; Chromosome 22q11 Deletion Syndrome)

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.
Parathyroid Glands
thyroid gland small image
Thyroid parathyroid gland (small image)
Parathyroid glands are located on the thyroid gland in the neck.
Copyright © Nucleus Medical Media, Inc.

Causes

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

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

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