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Living with Mosaic trisomy 10

A rare chromosome condition with slow growth and differences in the face, heart, kidneys, and bones that vary from person to person.

Understanding Mosaic trisomy 10

Mosaic trisomy 10 is a rare chromosome condition in which some cells have an extra copy of chromosome 10.

It is mainly marked by slow growth, distinctive facial features such as a prominent forehead, eyes set far apart, and cleft lip or palate, and differences in the heart, kidneys, and bones. Other features can include brain and ear differences and a blocked anus (anal atresia). The signs vary widely. 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:

  • Slow growth
  • Prominent forehead and wide-set eyes
  • Cleft lip or cleft palate
  • Heart and kidney differences
  • Bone differences, such as scoliosis
  • Small jaw (retrognathia)

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include genetic specialists.

  3. Ask 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
Bring these questions to your next doctor visit
Which tests confirm the mosaic pattern?
Which specialists should evaluate the heart, kidneys, and bones?
What care is available for cleft lip or palate?

Quick facts

Symptoms usually startduring Pregnancy and as a Newborn

This condition is caused by an extra copy of chromosome 10 in some, but not all, of the body's cells. GARD says changes in genes (also called variants) cause it.

Genetic

Also known as: mosaic trisomy 10 syndrome; mosaic trisomy chromosome 10; mosaic trisomy type 10; trisomy 10 mosaicism; uniparental disomy of 10

Patient organizations

Broader rare-disease groups

Source: NIH GARD · Mosaic trisomy 10GARD ID 19302 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Mosaic trisomy 10.

Explore the Mosaic trisomy 10 blog

Explore research for Mosaic trisomy 10

Explore actively recruiting Mosaic trisomy 10 studies with HealthSpark.

HealthSpark

Find actively recruiting studies for Mosaic trisomy 10 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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