Overview
20q11.2 microduplication syndrome is a rare genetic condition caused by having an extra small piece of chromosome 20 in a region called 20q11.2. This means that instead of the usual two copies of certain genes in this area, a person has three copies. This extra genetic material can affect how the body and brain develop. The syndrome is sometimes also referred to as chromosome 20q11.2 duplication syndrome. The condition can cause a range of symptoms that vary widely from person to person. Common features include developmental delay, intellectual disability (which can range from mild to moderate), speech and language difficulties, and behavioral challenges such as attention problems or features of autism spectrum disorder. Some individuals may also have subtle differences in facial features, low muscle tone (hypotonia), and feeding difficulties in infancy. Growth problems, including short stature or being overweight, have also been reported in some cases. Because the symptoms are so variable, treatment is tailored to each individual's needs. There is no cure for the underlying genetic change, so management focuses on supportive therapies such as speech therapy, occupational therapy, physical therapy, and behavioral interventions. Early intervention programs can make a meaningful difference in a child's development. Regular follow-up with a team of specialists helps ensure that emerging issues are addressed promptly.
Also known as:
Key symptoms:
Developmental delayIntellectual disability (mild to moderate)Speech and language delaysLow muscle tone (feeling floppy)Feeding difficulties in infancyBehavioral problems such as hyperactivity or attention difficultiesFeatures of autism spectrum disorderSubtle differences in facial featuresShort stature or growth problemsLearning difficulties in schoolDelayed motor milestones like sitting or walkingAnxiety or emotional difficultiesPossible seizures in some individualsOverweight or obesity in some cases
Clinical phenotype terms (50)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for 20q11.2 microduplication syndrome.
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Specialists
View all specialists →No specialists are currently listed for 20q11.2 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 20q11.2 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 and location of my child's duplication, and what genes are involved?,Was this duplication inherited from a parent or did it occur as a new change?,What therapies should we start right away, and how often should they occur?,Are there any specific medical complications we should screen for, such as seizures?,What kind of educational support or accommodations should we request at school?,How often should we have follow-up appointments, and with which specialists?,What does this mean for future pregnancies in our family?
Common questions about 20q11.2 microduplication syndrome
What is 20q11.2 microduplication syndrome?
20q11.2 microduplication syndrome is a rare genetic condition caused by having an extra small piece of chromosome 20 in a region called 20q11.2. This means that instead of the usual two copies of certain genes in this area, a person has three copies. This extra genetic material can affect how the body and brain develop. The syndrome is sometimes also referred to as chromosome 20q11.2 duplication syndrome. The condition can cause a range of symptoms that vary widely from person to person. Common features include developmental delay, intellectual disability (which can range from mild to moderat
At what age does 20q11.2 microduplication syndrome typically begin?
Typical onset of 20q11.2 microduplication syndrome is infantile. Age of onset can vary across affected individuals.