22q11.2 deletion syndrome
Synonyms: 22q11DS | CATCH 22 | Cayler cardiofacial syndrome | Conotruncal anomaly face syndrome | DiGeorge sequence | DiGeorge syndrome | Microdeletion 22q11.2 | Monosomy 22q11 | Sedlackova syndrome | Shprintzen syndrome | Takao syndrome | Velocardiofacial syndrome
A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects palatal anomalies facial dysmorphism developmental delay and immune deficiency.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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22q11.2 deletion syndrome?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Clinical Trials
For a list of clinical trials in this disease area, please click here.