Living with 16p12.1p12.3 triplication syndrome
A rare chromosome condition that can bring developmental delay, slower growth, and distinct facial features.
Understanding 16p12.1p12.3 triplication syndrome
People with this condition have global developmental delay and slower growth before or after birth. They have distinct facial features. Some may have heart disease present from birth, genital and urinary differences, vision differences, or, less often, liver disease in infancy. GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed fine and gross motor skills
- Heart differences (abnormal heart shape)
- Not gaining weight as expected
- Eye folds (epicanthus)
- Bulbous nose
- Low-set ears
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 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 triplication of the short arm of chromosome 16.
Also known as: tetrasomy 16p12.1-p12.3; tetrasomy 16p12.1p12.3; trip(16)(p12.1p12.3)
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 16p12.1p12.3 triplication syndrome.
Explore research for 16p12.1p12.3 triplication syndrome
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