Symptoms and Diagnosis

What are the signs of Mosaic Variegated Aneuploidy (MVA)?

Because MVA is such a rare and complex condition, its symptoms can vary widely. No two people experience it in exactly the same way - but there are some features that many people share.

Some of the most common symptoms include:

Physical and Developmental Symptoms

Slow growth: Many babies and children with MVA are smaller than average, and may grow more slowly over time.
Developmental delays: Some children may take longer to reach milestones like walking, talking, or sitting up.
Distinct facial features or physical differences: These vary from person to person, but may include low-set ears, a small jaw, or widely spaced eyes.
Low muscle tone (hypotonia): Babies may feel “floppy” or have difficulty holding their head up.
Learning difficulties: Some children may experience intellectual disability or learning challenges.

Increased Cancer Risk

One of the most serious aspects of MVA is a significantly increased risk of developing cancer, especially in early childhood. Some of the cancers linked with MVA include:

Rhabdomyosarcoma (soft tissue cancer)
Wilms tumour (a kidney cancer)
Leukaemia (a blood cancer)

Not everyone with MVA will develop cancer, but regular medical monitoring is essential.

How is MVA Diagnosed?

MVA is often diagnosed through genetic testing, often following unusual or unexplained health issues or cancers in infancy or childhood. In some cases, doctors may suspect MVA based on physical features or developmental concerns, and confirm the diagnosis through chromosome analysis (Karyotype testing).

Some people are diagnosed later - even in adulthood - particularly if they experience a rare type of cancer or go through advanced genome testing.

The Challenge of Diagnosis

Because MVA is so rare, it can take months or even years for families to get a diagnosis. Many healthcare professionals have never heard of it. That’s why advocacy and expert support are so critical - and why we work to guide families through this journey from the very first steps.