Living with 8p inverted duplication/deletion syndrome
A rare chromosome condition that can bring learning challenges, delayed speech and movement, low muscle tone, and brain and heart differences.
Understanding 8p inverted duplication/deletion syndrome
People have mild to severe intellectual disability and severe delays in movement and speech. Muscle tone is low at first and may later become stiff (hypertonia). There are distinct facial features. Differences present from birth can include brain differences such as an underdeveloped corpus callosum, spine curves or dislocated hips, and heart defects. 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
- Delayed speech and language
- Intellectual disability
- Low muscle tone in infancy
- Corpus callosum differences in the brain
- Heart differences
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 chromosome change in the short arm of chromosome 8.
Also known as: 8p inverted duplication deletion syndrome; invdupdel(8p); inverted 8p duplication/deletion syndrome
Patient organizations
- Project 8p8p inverted duplication/deletion syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with 8p inverted duplication/deletion syndrome.
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