Living with Tetrasomy 5p
A rare chromosome condition that can affect growth, development, muscle tone, the heart, and the skin.
Understanding Tetrasomy 5p
Other features can include seizures, enlarged fluid spaces in the brain (ventriculomegaly), hand and foot differences, and patchy skin color changes. Some people have small differences in the face. It can be noticed during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Slow growth after birth
- Trouble gaining weight (failure to thrive)
- Breathing difficulties
- Heart problems, such as a murmur or heart failure
- Club feet
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
GARD says changes in genes (variants) cause this condition, but it doesn't name a specific gene. It is a chromosomal condition.
Also known as: isochromosome 5p; tetrasomy 5p syndrome; tetrasomy type 5p
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 Tetrasomy 5p.
Explore research for Tetrasomy 5p
Explore actively recruiting Tetrasomy 5p studies with HealthSpark.
Find actively recruiting studies for Tetrasomy 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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