Living with Chromosome 17p13.3 duplication syndrome
A rare condition from an extra piece of chromosome 17 that causes developmental delay and distinct facial features.
Understanding Chromosome 17p13.3 duplication syndrome
GARD describes varying delay in development and movement and differences in facial features. It 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
- Low muscle tone (hypotonia)
- Frontal bossing and a high forehead
- Low-set ears
- Narrow mouth
- Short neck
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 Simons Searchlight 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 it is caused by an extra piece (duplication) of chromosome 17 at p13.3. It is listed as autosomal dominant.
Also known as: 17p13.3 duplication syndrome; 17p13.3 microduplication syndrome; chromosome 17p13.3 centromeric duplication syndrome; chromosome 17p13.3, centromeric, duplication syndrome; dup(17)(p13.3); trisomy 17p13.3
Patient organizations
- Simons SearchlightChromosome 17p13.3 duplication syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with Chromosome 17p13.3 duplication syndrome.
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