Living with 8p23.1 duplication syndrome
A rare chromosome condition that can bring developmental delay, learning challenges, heart differences, and cleft lip or palate.
Understanding 8p23.1 duplication syndrome
Features vary widely. They mainly include mild to moderate developmental delay, intellectual disability, mild facial differences, and heart differences present from birth. Facial differences may include cleft lip or palate. A larger head, attention problems, seizures, low muscle tone, and eye or finger differences have also been reported. GARD lists onset as during pregnancy, at birth, and as an infant.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Intellectual disability
- Language impairment
- Heart differences
- Highly arched eyebrows
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 Project 8p and other patient organizations
- 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 (also called variants) cause this condition. The summary describes it as a partial duplication of the short arm of chromosome 8.
Also known as: dup(8)(p23.1p23.1); trisomy 8p23.1
Patient organizations
- Project 8p8p23.1 duplication syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with 8p23.1 duplication syndrome.
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