Living with 17p11.2 microduplication syndrome
A condition, also called Potocki-Lupski syndrome, that can bring feeding trouble, delayed development, behavior differences, and sleep problems.
Understanding 17p11.2 microduplication syndrome
Babies may have low muscle tone and swallowing trouble that lead to feeding problems, and some do not gain weight as expected. About 40 percent are born with a heart defect. Development is delayed, and later intellectual disability is usually mild to moderate. Behavior concerns, autism traits, sleep problems, and vision or hearing differences can occur. GARD lists onset as from birth to childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Swallowing difficulty (dysphagia)
- Not gaining weight as expected
- Global developmental delay
- Autism
- Anxiety
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 Potocki-Lupski Syndrome Foundation 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. It results from an extra copy of a small piece of chromosome 17 in each cell.
Also known as: 17p11.2 duplication syndrome; chromosome 17p11.2 duplication syndrome; duplication 17p11.2 syndrome; potocki lupski syndrome; potocki-lupski syndrome; potocki-lupski syndrome (dup(17)(p11.2p11.2))
Patient organizations
- Potocki-Lupski Syndrome Foundation17p11.2 microduplication syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with 17p11.2 microduplication syndrome.
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