Living with 16p11.2p12.2 microduplication syndrome
A rare chromosome condition that can bring developmental delay, autism, behavior differences, and distinct facial features.
Understanding 16p11.2p12.2 microduplication syndrome
Features vary a lot. They typically include delayed development, especially speech, and intellectual disability. Autism spectrum disorder, repetitive behaviors, and behavior problems such as aggression and outbursts can occur. Distinct facial features, hand and finger differences, short stature, a smaller head, and a slender build are also often described. GARD lists onset as during pregnancy, at birth, and as an infant.
Signs & symptoms
Symptoms vary from person to person. GARD lists small head size (microcephaly) as common, and the summary also mentions these:
- Small head size (microcephaly)
- Developmental delay, especially speech
- Intellectual disability
- Autism spectrum disorder
- Behavior problems and outbursts
- Short stature
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 changes in genes (also called variants) cause this condition. The summary describes a partial duplication of the short arm of chromosome 16.
Also known as: 16p11.2 microduplication syndrome; 16p11.2-p12.2 microduplication syndrome; dup(16)(p11.2p12.2); trisomy 16p11.2p12.2
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 16p11.2p12.2 microduplication syndrome.
Explore research for 16p11.2p12.2 microduplication syndrome
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