Mosaic variegated aneuploidy syndrome

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Mosaic variegated aneuploidy syndrome

ORPHA:1052Malformation syndrome

Also called Warburton-Anyane-Yeboa syndrome

What it is

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Antenatal, Neonatal
Inheritance
Autosomal dominant, Autosomal recessive
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

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.

Genes

BUB1Disease-causing germline mutation(s)
BUB1BDisease-causing germline mutation(s)
BUB3Disease-causing germline mutation(s)
CEP57Disease-causing germline mutation(s)
TRIP13Disease-causing germline mutation(s)

ICD-10 codes

Q99.8filed under a broader ICD-10 category — shared with 42 other rare diseases

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

GARD 3007MESH C536682MONDO 0000141OMIM 257300OMIM 614114OMIM 617598OMIM 620153OMIM 620189UMLS C4551972

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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