Living with Mosaic trisomy 12
A rare chromosome condition with developmental or growth delay, short stature, unusual facial features, and sometimes heart or skin differences.
Understanding Mosaic trisomy 12
Symptoms are highly variable. They may include developmental or growth delay and short stature. Facial features can include a tall forehead, downslanting eyes, and a narrow palate. It can affect the heart and skin and weaken muscles. Some people also have scoliosis, hearing loss, uneven face or body, or intellectual disability. Signs are seen during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delays in reaching developmental milestones
- Low muscle tone (hypotonia)
- Wide nasal bridge
- Low-set ears
- Eye folds (epicanthus)
- Ears rotated toward the back of the head
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 an extra copy of chromosome 12 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 12 syndrome; mosaic trisomy chromosome 12; mosaic trisomy type 12; trisomy 12 mosaicism
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 12.
Explore research for Mosaic trisomy 12
Explore actively recruiting Mosaic trisomy 12 studies with HealthSpark.
Find actively recruiting studies for Mosaic trisomy 12 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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