Living with Paternal uniparental disomy of chromosome 5
A chromosome pattern where both copies of chromosome 5 come from the father, which usually causes no health problems.
Understanding Paternal uniparental disomy of chromosome 5
GARD says it most likely causes no health effects. The exception is when the father carries a recessive gene change on chromosome 5 and the child ends up with two copies of it. GARD also lists a number of symptoms linked to this condition.
Signs & symptoms
GARD lists these symptoms, which may depend on which inherited condition is involved:
- Delays in development
- Low muscle tone
- Short lower limbs and shortened upper arms
- Curved spine (kyphoscoliosis)
- Extra fluid during pregnancy (polyhydramnios)
- Hole between the upper heart chambers
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
Both copies of chromosome 5 come from the father. Health problems occur only if the father carries a recessive gene change and the child inherits two copies of it.
Also known as: paternal uniparental disomy of chromosome type 5; upd(5)pat
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 Paternal uniparental disomy of chromosome 5.
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