Living with 7q11.23 microduplication syndrome
A genetic condition that can bring delayed speech and movement, anxiety, behavior differences, and an enlarged aorta.
Understanding 7q11.23 microduplication syndrome
People typically have delayed speech and motor skills. Low muscle tone and abnormal movements can occur, and about one-fifth have seizures. Most have low-average to average intelligence. Anxiety, ADHD, and autism spectrum disorder are linked. About half have enlargement (dilatation) of the aorta, the large blood vessel from the heart, which can get worse over time. GARD lists onset as the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Low muscle tone (hypotonia)
- Anxiety
- Enlarged aorta (aortic aneurysm)
- Chronic constipation
- Larger head size (macrocephaly)
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. It is a duplication of a region on chromosome 7 and is listed as autosomal dominant.
Also known as: chromosome 7q11.23 duplication syndrome; dup(7)(q11.23); trisomy 7q11.23; wbs duplication syndrome; williams-beuren region duplication syndrome
Patient organizations
- Simons Searchlight7q11.23 microduplication syndrome · United States
- Duplication Cares7q11.23 microduplication syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with 7q11.23 microduplication syndrome.
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