Living with Mosaic trisomy 22
A rare chromosome condition with signs that vary widely, from normal growth and development to growth delay and physical differences.
Understanding Mosaic trisomy 22
The range and severity vary widely. Features may include growth delays, thinking and learning differences, unequal development of the two sides of the body, a webbed neck, elbows that turn outward, many moles or birthmarks, and differences in the head and face. Some children have normal growth and development. Signs are seen during pregnancy or in the newborn period.
Signs & symptoms
GARD doesn't list a set of most common symptoms for this condition. Its summary describes these features:
- Growth delays
- Thinking and learning differences
- Unequal development of the two sides of the body
- Webbed neck
- Many moles or birthmarks
- Differences in the head and face
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 genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- 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
This condition is caused by three copies of chromosome 22 in some, but not all, of the body's cells. GARD says changes in genes (also called variants) cause it.
Also known as: mosaic trisomy chromosome 22; mosaic trisomy type 22; trisomy 22 mosaicism; uniparental disomy of 22
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 trisomy 22.
Explore research for Mosaic trisomy 22
Explore actively recruiting Mosaic trisomy 22 studies with HealthSpark.
Find actively recruiting studies for Mosaic trisomy 22 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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