Living with Chromosome 16p13.3 duplication syndrome
An extra piece of chromosome 16 that can affect development, speech, joints, and facial features, and sometimes the heart.
Understanding Chromosome 16p13.3 duplication syndrome
Symptoms and how strong they are vary because people have different amounts of extra DNA. Possible symptoms include developmental and speech delay, joint differences, distinct facial features, attention deficit, autism spectrum disorders, and heart conditions. Most cases occur randomly, and less often the duplication is inherited from a parent.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Short thumb set close to the wrist
- Gap between the first and second toes
- Permanently bent fingers or toes (camptodactyly)
- Protruding ears
- Upward-slanting eyelid openings
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 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 caused by an extra piece (duplication) of chromosome 16 at p13.3. Most cases occur randomly, and a person with it can pass it to a child.
Also known as: 16p13.3 microduplication syndrome; chromosome 16p13.3 duplication syndrome, isolated cases; distal duplication 16p; distal trisomy 16p; dup(16)(p13.3); telomeric duplication 16p
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 16p13.3 duplication syndrome.
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