Living with Mosaic variegated aneuploidy syndrome
A rare condition in which some cells have missing or extra chromosomes, causing slow growth, a small head, and a higher chance of childhood cancers.
Understanding Mosaic variegated aneuploidy syndrome
Usually at least one-quarter of cells have the wrong number, and the extra or missing chromosomes differ from cell to cell. Growth is slow before and after birth, and people are shorter than average with a small head (microcephaly). There is a higher chance of childhood cancers, most often rhabdomyosarcoma, Wilms tumor, and leukemia. Eye differences, brain differences such as Dandy-Walker malformation, intellectual disability, and seizures can also occur. There are at least three types.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Smaller-than-average head size (microcephaly)
- Short stature
- Eye differences, such as cataracts and small eyes
- Delays in reaching developmental milestones
- Intellectual disability
- Dandy-Walker brain malformation
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, cancer specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Chromosome Disorder Outreach
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes (also called variants) cause this condition, and each type has a different genetic cause. It can be autosomal dominant or autosomal recessive.
Also known as: mva syndrome; warburton-anyane-yeboa syndrome
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Mosaic variegated aneuploidy syndrome.
Explore research for Mosaic variegated aneuploidy syndrome
Explore actively recruiting Mosaic variegated aneuploidy syndrome studies with HealthSpark.
Find actively recruiting studies for Mosaic variegated aneuploidy syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Mosaic variegated aneuploidy syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Mosaic variegated aneuploidy syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Mosaic variegated aneuploidy syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.