DiGeorge Syndrome
WHAT IS IT?
DiGeorge syndrome is a
condition present from
birth that can cause a
range of lifelong problems,
including heart defects
and learning difficulties.
The severity of the
condition varies. Some
children can be severely ill
and very occasionally may
die from it, but many
others may grow up
without realising they
have it.
RISK FACTORS MANAGEMENT
If neither parent has DiGeorge syndrome, the
Antibiotic medications to treat
risk of having another child with it is thought to
be less than 1 in 100 (1%). If 1 parent has the infections. Calcium supplements to
condition, they have a 1 in 2 (50%) chance of treat low calcium levels. Ear tubes or
passing it on to their child. hearing aids to improve hearing.
Occupational therapy to improve
developmental delays.
DIAGNOSTIC
Treatment requires a transplant of
A diagnosis of DiGeorge syndrome (22q11.2 thymus tissue, specialized cells from
deletion syndrome) is based primarily on a lab test bone marrow or specialized disease-
that can detect the deletion in chromosome 22. fighting blood cells. Cleft palate. A cleft
palate or other abnormalities of the
Your doctor will likely order this test if your child
has: palate and lip can usually be surgically
repaired. Overall development
SIGNS AND SYMPTOMS
bone, muscle and joint problems – including leg pains that
keep coming back, an unusually curved spine (scoliosis) and
rheumatoid arthritis. short stature – children and adults may
be shorter than average. mental health problems – adults are
more likely to have problems such as schizophrenia and
anxiety disorders.