Living with Trisomy 5p
A chromosome condition with an extra piece of chromosome 5 that can affect learning, behavior, and the face.
Understanding Trisomy 5p
Severity depends on the size and place of the duplication. Features often include developmental delay, intellectual disability, behavior problems, and distinctive facial features. It starts during pregnancy and is noticed in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Developmental delay
- Intellectual disability
- Short stature
- Larger than usual head (macrocephaly)
- Round face and wide-set eyes
- Scoliosis
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, genetic specialists and hormone 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); Hormone specialists (endocrinologists)
- 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
It is caused by an extra piece of chromosome 5. GARD says most cases are not inherited, but a person with the duplication can pass it on to their children.
Also known as: 5p partial trisomy; chromosome 5, trisomy 5p; duplication 5p; duplication of the short arm of chromosome 5; partial trisomy of short arm of chromosome 5; trisomy of the short arm of chromosome 5
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 Trisomy 5p.
Explore research for Trisomy 5p
Explore actively recruiting Trisomy 5p studies with HealthSpark.
Find actively recruiting studies for Trisomy 5p 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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