2. Symptoms
Depending on the severity…
• Weakness or tiring easily
• Failure to thrive
• Failure to gain weight
• Poor muscle tone
• Shortness of breath
• Frequent infections
• Difficulty feeding
• Delayed speech development
• Learning delays or difficulties
• A gap in the roof of the mouth (cleft palate) and
other issues
• Certain facial features, such as low-set
ears, wide-set eyes or a narrow groove in the
upper lip
• Bluish skin due to poor circulation of oxygen-rich
blood
• Twitching or spasms around the
mouth, hands, arms or throat
• Delayed development, such as delays in rolling
over, sitting up or other infant milestones
3. Diagnosis
Based on a laboratory test that can detect the deletion in chromosome 22. Your
doctor will likely order such a test if a combination of medical problems or
conditions suggests DiGeorge syndrome.
Symptoms are similar to some heart defects commonly associated with
DiGeorge syndrome, therefore a heart defect can prompt your doctor to
order chromosome tests.
4. Diagnosis
• Facial features that are
characteristic of DGS.
• Infants can have low blood
calcium levels as a result of
hypoparathyroidism. This
may show up as low blood
calcium on a routine blood
test, or the infant may be
“jittery” or have seizures as
a result of the low calcium.
5. DiGeorge is caused by. . .
The deletion of a
portion of
chromosome 22.
Each person has
two copies of
chromosome 22,
one inherited
from each parent.
This chromosome
contains an
estimated 500 to
800 genes.
6. Treatments
• There is no cure for DiGeorge syndrome. There are treatments and
therapy for a person, some issues that can be fixed include:
• Hypoparathyroidism- is managed with calcium
supplements, vitamin D, and a low phosphorus diet.
• Cleft palate-This or other abnormalities of the palate can be
surgically repaired.
• Heart defects- Most require surgery to repair the heart and correct
blood circulation.
• Overall development- speech therapy to improve verbal skills and
articulation, occupational therapy to learn everyday skills and
developmental therapy to learn appropriate behaviors, social skills
and interpersonal skills. In the United States, early intervention
programs providing these types of therapy are usually available
through a state's health department.
7. Prognosis (lifestyle)
• This varies, many infants
die from
seizures, infections, or
heart failure in the first
year.
• One month morality rate
is 55%, 6 month is 86%
• As far as life
expectancy, they can live
out a long, fairly average
life depending on the
severity and the proper
type of care they receive.
“Jacob, who suffers from the genetic
disorder DiGeorge Syndrome, has
overcome many obstacles, and he
continues to play for Pitman Little League.”
8. Bibliography
• Doctor Mary. "DiGeorge Syndrome –
Symptoms, Diagnosis, Treatment, Prognosis, Life
Expectancy, Pictures." DiGeorge Syndrome.
N.p., n.d. Web. 13 Mar. 2014.
• "DiGeorge Syndrome." Immune Deficiency
Foundation. N.p., n.d. Web. 13 Mar. 2014.
• "DiGeorge Syndrome." Diagnosis at Mayo Clinic.
N.p., 9 Aug. 2011. Web. 13 Mar. 2014.
• "DiGeorge Syndrome." Symptoms. N.p., 9 Aug.
2011. Web. 13 Mar. 2014.
