Living with Triploidy
A chromosome condition in which cells have an extra full set of chromosomes, causing birth differences and small size.
Understanding Triploidy
Signs vary but can include a variety of birth defects and a small size. In the mosaic form, only some cells have the extra set, and signs may be less severe. GARD says it does not run in families and is not linked to the age of either parent.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow growth before birth
- Small lower jaw (micrognathia)
- Cleft palate or cleft lip
- Differences in the eyes, such as small or missing eyes
- Belly wall opening (omphalocele)
- Fused fingers (syndactyly)
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 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
- 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
Triploidy happens when each cell has an extra set of chromosomes. GARD says it does not run in families and is not tied to maternal or paternal age.
Also known as: triploidy 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 Triploidy.
Explore research for Triploidy
Explore actively recruiting Triploidy studies with HealthSpark.
Find actively recruiting studies for Triploidy 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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