DiGeorge syndrome

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Disease Overview

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.

Synonyms

22q deletion syndrome(s)
22q11.2 Deletion syndrome
Catch22
DGS
DGS1
Di-George syndrome
DiGeorge anomaly
DiGeorge syndrome
DiGeorge syndrome chromosome region
DiGeorge syndrome type 1
DiGeorge's syndrome
Shprintzen syndrome
Sphrintzen
Takao VCF syndrome
VCF
chromosome 22Q11.2 deletion syndrome
hypoplasia of thymus and parathyroids
pharyngeal pouch syndrome
third and fourth pharyngeal pouch syndrome
velo-cardio-facial syndrome
velocardiofacial syndrome

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

View report

OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.