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Start free with EleplanTrisomy 5p syndrome
ORPHA:1742Malformation syndrome
Also called Duplication 5p · Duplication of the short arm of chromosome 5 · Trisomy of the short arm of chromosome 5
What it is
A rare chromosomal anomaly caused by the duplication of a segment of variable size of the short arm of chromosome 5, characterized by macrocephaly, intellectual disability and distinctive facial features. Other common features include talipes equinovarus, cerebral malformations and hypotonia. Congenital heart defects can sometimes occur.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Not applicable, Unknown
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
17These 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.
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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