Living with 11p15.4 microduplication syndrome
A rare chromosome condition that can involve weight gain, developmental delay, and distinct facial features.
Understanding 11p15.4 microduplication syndrome
People with this condition may have obesity, developmental delay, and intellectual disability. Other features can include distinct facial features, large hands, and low muscle tone in the arms and legs. Seizures and behavior differences may also occur. GARD lists onset as the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Intellectual disability
- Delayed speech and language
- Behavior differences
- Aggressive behavior
- Distinct facial shape
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, genetic specialists and hormone 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); Hormone specialists (endocrinologists)
- 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. It is listed as autosomal dominant.
Also known as: dup(11)p(15.4); trisomy 11p15.4
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 11p15.4 microduplication syndrome.
Explore research for 11p15.4 microduplication syndrome
Explore actively recruiting 11p15.4 microduplication syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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