Overview
2q23.1 microduplication syndrome is a rare genetic condition caused by having an extra small piece of chromosome 2 in a specific region called 2q23.1. This means that instead of the usual two copies of the genes in this area, a person has three copies. The extra genetic material disrupts normal development, particularly of the brain and nervous system. This condition is sometimes referred to as 2q23.1 duplication syndrome. People with this syndrome typically experience intellectual disability that ranges from mild to moderate, speech and language delays, and behavioral challenges such as autism spectrum features or attention difficulties. Some individuals may also have subtle differences in facial features, low muscle tone (hypotonia) in infancy, and motor skill delays. Seizures have been reported in some cases but are not universal. Because this is a very rare condition, there is no specific cure or targeted treatment. Management focuses on supportive therapies including speech therapy, occupational therapy, physical therapy, and behavioral interventions. Early intervention programs can make a meaningful difference in a child's development. Each person's experience with this syndrome can vary widely, so treatment plans are tailored to the individual's specific needs. Ongoing monitoring by a team of specialists helps ensure the best possible outcomes.
Also known as:
Key symptoms:
Intellectual disability (mild to moderate)Speech and language delaysDelayed motor milestones like sitting and walkingLow muscle tone in infancyBehavioral difficulties such as hyperactivity or attention problemsFeatures of autism spectrum disorderSubtle differences in facial featuresSeizures in some individualsLearning difficultiesAnxiety or mood challengesFeeding difficulties in infancySleep disturbancesCoordination problems
Clinical phenotype terms (37)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for 2q23.1 microduplication syndrome.
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Specialists
View all specialists →No specialists are currently listed for 2q23.1 microduplication syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to 2q23.1 microduplication syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the exact size of my child's duplication, and which genes are involved?,What developmental milestones should we be watching for, and when should we be concerned?,What therapies should we start right away, and how often should they occur?,Is my child at risk for seizures, and what should I watch for?,Was this duplication inherited from a parent, or did it happen for the first time in my child?,What educational supports or accommodations should we request at school?,Are there any research studies or clinical trials we should know about?
Common questions about 2q23.1 microduplication syndrome
What is 2q23.1 microduplication syndrome?
2q23.1 microduplication syndrome is a rare genetic condition caused by having an extra small piece of chromosome 2 in a specific region called 2q23.1. This means that instead of the usual two copies of the genes in this area, a person has three copies. The extra genetic material disrupts normal development, particularly of the brain and nervous system. This condition is sometimes referred to as 2q23.1 duplication syndrome. People with this syndrome typically experience intellectual disability that ranges from mild to moderate, speech and language delays, and behavioral challenges such as auti
How is 2q23.1 microduplication syndrome inherited?
2q23.1 microduplication syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does 2q23.1 microduplication syndrome typically begin?
Typical onset of 2q23.1 microduplication syndrome is infantile. Age of onset can vary across affected individuals.