DiGeorge Syndrome is a primary immunodeficiency disease associated with susceptibility to infections. It is caused by abnormal cell development during fetal growth that can affect the immune system, facial features, glands, and organs like the heart. Symptoms vary depending on which organs are affected but often include infections, heart defects, and low calcium levels. Diagnosis is usually at birth based on multiple symptoms. Treatment is personalized and may include antibiotics, surgery, bone marrow transplant, or close monitoring depending on severity and organs involved.

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Health Topics
DiGeorge Syndrome
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2. Overview
DiGeorge Syndrome (DGS) is a primary
immunodeficiency disease associated with
susceptibility to infections due to poor T cell
production and function.
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3. Overview
While DGS is a lifelong condition, it mostly affects
infants and children. Depending on the severity of
the syndrome, recurrent infections tend to
decrease in late childhood and adulthood.
Still, approximately one-third of affected adults will
have mild recurrent infections. Children with DGS
differ in the organs and tissues affected, as well as
in the severity of the disease.
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4. Symptoms
Certain facial features are often seen with DGS -
low set ears, underdeveloped chin, a short
philtrum (the vertical groove on the upper lip), a
bulbous nose tip, heavy eyelids and/or a small
mouth. Nasal-sounding speech can occur when a
cleft palate is involved. Short stature, learning
difficulties or certain psychiatric disorders are also
common.
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5. Symptoms
Based on which organs are affected by the
syndrome, other symptoms may include:
-- Frequent infections
-- Low calcium levels
-- Heart defects
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6. Symptoms
http://www.aaaai.org/conditions-and-
treatments/primary-immunodeficiency-
disease/digeorge-syndrome.aspx
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7. Diagnosis
DGS is often diagnosed at birth or in infancy based
on clinical observation of multiple symptoms with
various organs. A genetic test can be done to
confirm the diagnosis.
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8. Causes
DGS is caused by abnormal cell and tissue
development during fetal growth. In addition to
possible immune system problems, this abnormal
development can result in altered facial
characteristics, abnormal gland development or
defects in organs such as the heart. Most cases
result from a deletion of chromosome 22q11.2
(the DGS chromosome region). A small number of
cases of DGS have defects in another chromosome,
notably 10p13.
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9. Causes
Some people with DGS are susceptible to
infections due to poor T cell production and
function.
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10. Treatment
As the organs and tissues involved and the severity
of the abnormalities vary, treatment plans for DGS
must be personalized.
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11. Treatment
For instance, mild T cell problems can often be
managed with antibiotics and close follow-up. On
the other extreme, cases of DGS in which T cell
development is severely affected have been
successfully treated with bone marrow or thymus
transplant.
Severe problems involving the heart or facial
features may require corrective surgery.
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12. Treatment
Children with DGS benefit from a multi-specialty
approach to treatment, since this disease can be
associated with a spectrum of disorders that fall
under varying different medical specialties
including ENT, immunology, cardiology, genetics
and speech therapy.
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13. Additional Resources
To learn more about primary immunodeficiency
disease, visit The Immune Deficiency Foundation.
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