Living with 3q26 microduplication syndrome
A rare chromosome condition that can bring slower growth, developmental delay, and differences in the heart, genitals, urinary tract, and skeleton.
Understanding 3q26 microduplication syndrome
People with this condition grow more slowly before and after birth. They have developmental delay, intellectual impairment, and distinct features. Birth differences vary and may include the heart, genitals and urinary tract, skeleton, and lower body (caudal malformations). GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes these features:
- Slow growth before and after birth
- Developmental delay
- Intellectual impairment
- Heart differences present from birth
- Genital and urinary tract differences
- Skeletal differences
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 eye disease 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
- Eye disease specialists (ophthalmologists); 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 it as a chromosome change, an extra piece of chromosome 3.
Also known as: cornelia de lange-like syndrome; dup(3)(q26); dup(3q) syndrome; trisomy 3q26
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 3q26 microduplication syndrome.
Explore research for 3q26 microduplication syndrome
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