Living with Mosaic trisomy 1
A very rare chromosome condition with reduced movement and slow growth before birth and multiple differences present at birth.
Understanding Mosaic trisomy 1
It is marked by less fetal movement, slow growth before birth, and low birth weight. Babies may have multiple differences present at birth, including facial differences such as a cleft lip or palate and a small jaw, a smaller-than-average head, and hand and foot differences. Extra body hair and differences in the brain, heart, and lungs are also reported. Signs are seen in the newborn period.
Signs & symptoms
GARD lists these among the less common symptoms; its summary also describes the features above:
- Abnormally shaped ears
- Abnormally small eyeball
- Missing corpus callosum (the bridge between brain halves)
- Broad toe
- Small cerebellum (cerebellar vermis hypoplasia)
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 1 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 1 syndrome; mosaic trisomy chromosome 1; mosaic trisomy type 1; trisomy 1 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 1.
Explore research for Mosaic trisomy 1
Explore actively recruiting Mosaic trisomy 1 studies with HealthSpark.
Find actively recruiting studies for Mosaic trisomy 1 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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