Living with Chromosome 5p13 duplication syndrome
A rare condition with an extra piece of chromosome 5, causing developmental delay, low muscle tone, a large head, and distinct facial features.
Understanding Chromosome 5p13 duplication syndrome
Features include global developmental delay, intellectual disability, autistic behavior, low muscle tone, a large head, and facial differences. Sleep problems, seizures, an underdeveloped corpus callosum, and skeletal differences such as large hands and feet and clubfoot are also associated. GARD lists onset in the newborn period and infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Intellectual disability
- Low muscle tone (hypotonia)
- Sleep problems
- Frontal bossing and low-set ears
- High palate and long fingers
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 brain and nervous system 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
- Brain and nervous system specialists (neurologists); 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 it is a rare partial trisomy or tetrasomy, meaning extra copies of part of chromosome 5 at p13.
Also known as: 5p13 microduplication syndrome; chromosome 5p13 duplication syndrome, isolated cases; dup(5)(p13); trisomy 5p13
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 Chromosome 5p13 duplication syndrome.
Explore research for Chromosome 5p13 duplication syndrome
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