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Start free with EleplanInverted duplicated chromosome 15 syndrome
ORPHA:3306Malformation syndrome
Also called Duplication/inversion 15q11 · Inv dup (15) syndrome · Isodicentric chromosome 15 syndrome · Non-distal tetrasomy 15q · Non-telomeric tetrasomy 15q · idic (15) syndrome
What it is
A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterized by early central hypotonia, global developmental delay and intellectual deficit, autistic behavior, and seizures.
Key facts
- Prevalence
- 1-9 / 100 000 (at birth)
- Age of onset
- 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
Common30–79%
9Sometimes5–29%
19- 2-3 toe syndactyly
- Abnormal facial shape
- Abnormality of brain morphology
- Aggressive behavior
- Brachycephaly
- Brachydactyly
- Broad nasal tip
- Clinodactyly of the 5th finger
and 11 more in this range
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.
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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