Mosaic variegated aneuploidy syndrome

Mosaic variegated aneuploidy syndrome
Other namesMVA, Warburton-Anyane-Yeboa syndrome
Photo of person and their karyotype, showing facial feeatures (High forehead, midface hypoplasia, long philtrum, hypertelorism, epicanthal folds, short and wide nose, depressed nasal bridge). Karyotype shows trisomy of chromsome 17 and chromosome 8.
SpecialtyMedical genetics
SymptomsPeritoneal fluid excess, cataracts, Dandy-Walker malformation, epicanthus, glaucoma, small jaw, increased nuchal translucency, short stature, enlargement of ventricles in the brain
Causesgenetic mutations
Frequency1 per 1,000,000

Mosaic variegated aneuploidy syndrome is a rare autosomal recessive genetic disorder that causes inappropriate chromosomal segregation in mitosis process and because of it, some cells are aneuploid (mosaic). It is caused by mutation BUB1, BUB1B, BUB3, CEP57 or TRIP13.

Person with MVA can present with IUGR, microcephaly and a wide range of congenital abnormalities.

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