22q11.2 duplication syndrome
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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.
Chromosome 22 Central
To spread awareness and offer support and information on all chromosome 22 disorders.
Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.