DiGeorge
syndrome is a genetic condition that happens when a small part of chromosome 22
is missing. This missing piece affects how different parts of the body grow and
work.
How Does
It Happen?
It’s
caused by a deletion (missing section) in chromosome 22 at position q11.2.
It can
happen by chance (randomly) or be passed on from a parent.
Common
Signs and Symptoms
People
with DiGeorge syndrome may have a wide variety of symptoms. These can range
from mild to serious, and not everyone has the same problems.
💓 Heart Problems
Many
babies are born with heart defects, especially in the areas where blood leaves
the heart.
🛡️ Weak Immune System
The thymus
gland, which helps fight infection, might be missing or small.
This can
cause more frequent infections.
👄 Mouth and Face Differences
Cleft
palate (a hole in the roof of the mouth)
Facial
features may include a long face, small chin, or ears that are set low.
⚖️ Low Calcium (Hypocalcemia)
Problems
with the parathyroid glands can cause low calcium levels, which may lead to
seizures or muscle cramps.
🧠 Learning and Development
Some
people may have learning difficulties, delays in speech, or trouble with
attention or behavior.
How Is
It Diagnosed?
A genetic
test (blood test) looks for the missing part of chromosome 22.
Sometimes
it’s found during tests for heart problems or delays in growth and learning.
Is There
a Cure?
There is
no cure, but many treatments are available to help manage symptoms.
This
might include:
Heart
surgery
Calcium
supplements
Immune
system support
Speech,
physical, and educational therapy
Living
with DiGeorge Syndrome
People
with this condition can live full lives with the right support.
Early
diagnosis and care make a big difference in managing health and development.
No comments:
Post a Comment