Living with Distal 7q11.23 microdeletion syndrome
A rare chromosome condition that mainly affects the brain, with seizures, learning difficulties, and behavior differences.
Understanding Distal 7q11.23 microdeletion syndrome
People with this condition often have seizures (epilepsy) and delays in development. Intellectual disability and learning disability can range from mild to more significant. Behavior and mood differences may also occur, including autism spectrum disorder, hyperactivity, impulsivity, aggression, and depression. Signs can appear in the newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Intellectual disability
- Learning disability
- Delays in development
- Autism spectrum disorder
- Hyperactivity and impulsivity
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, which is a missing piece of chromosome 7. GARD lists autosomal dominant inheritance, meaning one changed copy is enough to cause it.
Also known as: chromosome 7q11.23 deletion syndrome, distal, 1.2-mb; chromosome 7q11.23 deletion syndrome, distal, 1.2mb; distal chromosome 7q11.23 deletion syndrome; distal del(7)(q11.23); distal monosomy 7q11.23
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 microdeletion syndrome.
Explore research for Distal 7q11.23 microdeletion syndrome
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