DiGeorge Syndrome
(Velocardiofacial Syndrome; Chromosome 22q11 Deletion Syndrome)
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Definition
DiGeorge syndrome is a rare genetic disease. It is present at birth. This genetic disease can cause a wide range of symptoms and health problems. Some may have mild symptoms while other are severe. 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.
Symptoms
Physical features of DiGeorge are present at birth. These features do not worsen with age. They may include:
- Elongated face
- Almond-shaped eyes
- 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
- Failure-to-thrive
- Increased incidence of psychiatric disorders
- Hypoparathyroidism
- Occasional abnormalities include structural brain defects, scoliosis , umbilical or inguinal hernias , kidney abnormalities, anogenital abnormalities, eye abnormalities, and thyroid problems
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.
The doctor may order other tests. These tests may help to see what problems