Digeorge syndrome

A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.

Disease Alternative Name

sphrintzen

shprintzen syndrome

digeorge anomaly

digeorge syndrome type 1

22q11.2 deletion syndrome

velocardiofacial syndrome

velo-cardio-facial syndrome

digeorge sequence

dgs1

22q deletion syndrome(s)

vcf

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Recent Cases of Digeorge syndrome

Browse recently discussed Digeorge syndrome cases by specialists

Dr. Jaison Jacob

Palliative Medicine

A previously healthy 30 yr Old man is injured in an automobile accident. He is taken to the emergency department, where he is noted to have multiple laceration of his extremities, some of which are bleeding profusely. His blood pressure is ...See More

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