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Start free with Eleplan22q11.2 duplication syndrome
ORPHA:1727Malformation syndrome
Also called 22q11.2 microduplication syndrome · Dup(22)(q11) · Duplication 22q11.2 · Trisomy 22q11.2
What it is
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.
Key facts
- Age of onset
- All ages
- Inheritance
- Autosomal dominant
- Classified as
- Malformation syndrome
Signs and symptoms
Common30–79%
15- Abnormality of speech or vocalization
- Abnormality of the pharynx
- Cleft palate
- Delayed speech and language development
- Depressed nasal ridge
- Downslanted palpebral fissures
- Epicanthus
- Global developmental delay
- High forehead
- Hypernasal speech
- Hypertelorism
- Hypotonia
- Intellectual disability
- Midface retrusion
- Narrow face
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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