Synonyms: 22q11.2 microduplication syndrome | Dup(22)(q11) | Duplication 22q11.2 | Trisomy 22q11.2
A rare chromosomal anomaly characterized by an extremely variable clinical phenotype and may include heart defects urogenital abnormalities velopharyngeal insufficiency with or without cleft palate and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal.
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 2026
Newly diagnosed with
22q11.2 duplication syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Chromosome 22 Central
To spread awareness and offer support and information on all chromosome 22 disorders.
Rare Chromosome Disorder Support Group – Unique
Through sharing knowledge and lived experience, Unique helps families and professionals navigate the world of chromosome and gene disorders
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Clinical Trials
For a list of clinical trials in this disease area, please click here.