DiGeorge Syndrome

What is it?

DiGeorge syndrome is a deletion syndrome and it's caused by a defect in chromosome 22 resulting in the poor development of some body systems.

The syndrome affects between 1 in 2000 and 1 in 4000 live births.

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There are many symptons that might occur like:

-congenital heart disease

-defects in the palate(roof of the mouth)

-neuromuscular problems

-learning disabilities

-issues in the immune system

-some differences in facial features

-recurrent infections

-Bluish skin because of poor circulation of oxygen-rich blood

-abnormal kidneys

-growth issues


-mental disorders

-abnormal skeleton

-failure to gain weight

-delayed speech development

-shortness of breath


It's caused by genetic deletions found on the long arm of one of the two 22nd chromosomes and it might very rarely be caused from deletions on the short arm of chromosome 10. The deletion of genes from chromosome 22 usually happens randomly in the father's sperm or in the mother's egg. The mechanism that causes all of the features of the syndrome is unknown.
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Life Expectancy

The individuals who survive infancy and early childhood would have the same life span as a normal person would have. In most cases they will need to have constant care and will need to be in treatment for different symptoms, and the burden on the families is huge.


There is no cure for the syndrome, and only some symptoms are treatable using standard treatments.

Support Groups

DiGeorge Syndrome Support Group

Eddy Marushkin