22q11.2 deletion syndrome

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Disease Overview

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

Synonyms

22q11DS
Cayler cardiofacial syndrome
DiGeorge sequence
DiGeorge syndrome
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
VCFS
catch 22
conotruncal anomaly face syndrome
microdeletion 22q11.2
monosomy 22q11
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

Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.