It is a congenital defect in the organs (thymus, parathyroid) derived from the third and fourth pharyngeal pouches. DiGeorge syndrome is characterized by few specific cardiac malformations, a sub-set of facial attributes, and certain endocrine and immune anomalies.

Some of the facial characteristics of DiGeorge syndrome are bifid uvula, high-arched palate, small mouth and wide set eyes, down-slanting eyes, hooded eyes, long face, cupped low set ears, bulbous nasal tip, and a dimpled or bifurcated nasal tip.

Immune deficiency of varying severity, hypo calcemia (which may lead to seizures) and hypo parathyroidism are some of the most prominent features of DiGeorge syndrome.

The cause of Di George syndrome has been identified as a submicroscopic deletion in chromosome 22.

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Alcohol consumption during the early stages of fetal development may be one of the many environmental explanations for the micro deletion. The baby born with this disease may die by congestive heart failure within a day of birth.

Since the heart is very sensitive to calcium levels, impaired calcium regulation caused by the absence or defective function of parathyroid glands is responsible for congestive heart failure. However patients, who crossed the neonatal period successfully, develop recurrent and chronic infections.