Living with 5q35 microduplication syndrome
A genetic condition with a small head, short height, developmental delay, and delayed bone growth.
Understanding 5q35 microduplication syndrome
It is linked with a smaller head size (microcephaly), short stature, developmental delay, and delayed bone maturation. Learning disability and behavior differences are also listed. GARD lists onset as childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head size (microcephaly)
- Short stature
- Intellectual disability
- Delayed bone maturation
- Specific learning disability
- Nearsightedness (myopia)
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 Simons Searchlight and other patient organizations
- 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 condition involves an extra piece of chromosome 5.
Also known as: dup(5)(q35); trisomy 5q35
Patient organizations
- Simons Searchlight5q35 microduplication syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with 5q35 microduplication syndrome.
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