Living with Distal 7q11.23 microduplication syndrome
A rare chromosome condition that mostly affects thinking, speech, and behavior, and sometimes the heart and blood vessels.
Understanding Distal 7q11.23 microduplication syndrome
This condition mainly affects the brain and behavior, with only a few differences in physical features. Speech delay and learning difficulties are common. People may have attention deficit hyperactivity disorder (ADHD), anxiety, autistic behavior, or aggressiveness. Some have low muscle tone, undescended testes, or a bulge in a large artery (aortic aneurysm). Signs can appear in the newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Mild intellectual disability
- Anxiety
- Attention deficit hyperactivity disorder (ADHD)
- Autistic behavior
- Low muscle tone (hypotonia)
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 a person's genes cause this condition. The summary describes it as a duplicated piece of chromosome 7.
Also known as: distal dup(7)(q11.23); distal trisomy 7q11.23; dup7q11.23d
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 Distal 7q11.23 microduplication syndrome.
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