What is DiGeorges syndrome ?
It
is a rare form of hypoparathyroidism associated with defective
development of both the thymus and the parathyroid glands. It is
thought to be due to loss of a portion of the proximal long arm of
chromosome 22.
Congenital
cardiovascular and other developmental defects are present, and most
patients die in early childhood with severe infections, hypocalcemia
and seizures, or cardiovascular complications. Some survive into
adulthood. Milder and incomplete forms also occur.
Immunodeficiency also
forms important component of this syndrome.
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