Overview
19p13.3 microduplication syndrome is a rare genetic condition caused by a small extra copy (duplication) of genetic material on the short arm of chromosome 19, specifically at the region labeled 13.3. This means that instead of having two copies of certain genes in this region, a person has three copies. This extra genetic material can disrupt normal development and body function. The syndrome primarily affects brain development and can lead to intellectual disability, developmental delays, speech and language problems, and behavioral difficulties. Some individuals may also have subtle differences in facial features, low muscle tone, and seizures. The severity of symptoms can vary widely from person to person, even within the same family, depending on the exact size of the duplication and which genes are involved. Because this is a very recently described condition, there is no specific cure or targeted treatment. Management focuses on supportive care, including early intervention services such as speech therapy, occupational therapy, physical therapy, and special education programs. Seizures, if present, are treated with standard anti-seizure medications. Regular follow-up with a team of specialists helps optimize each person's development and quality of life.
Also known as:
Key symptoms:
Intellectual disability (ranging from mild to moderate)Delayed speech and language developmentDevelopmental delays in motor skillsLow muscle tone (feeling floppy)Behavioral difficulties such as hyperactivity or autism-like featuresSeizures or epilepsySubtle differences in facial featuresLearning difficulties in schoolAttention problemsFeeding difficulties in infancyAnxiety or emotional challengesDelayed walking milestones
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 19p13.3 microduplication syndrome.
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Specialists
View all specialists →No specialists are currently listed for 19p13.3 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 19p13.3 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
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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 which genes are involved?,Was this duplication inherited from a parent or did it occur new in my child?,What therapies should we start right away to support my child's development?,Should we be concerned about seizures, and what signs should we watch for?,How often should my child have developmental assessments?,Are there other family members who should be tested?,Are there any research studies or registries we can join for this condition?
Common questions about 19p13.3 microduplication syndrome
What is 19p13.3 microduplication syndrome?
19p13.3 microduplication syndrome is a rare genetic condition caused by a small extra copy (duplication) of genetic material on the short arm of chromosome 19, specifically at the region labeled 13.3. This means that instead of having two copies of certain genes in this region, a person has three copies. This extra genetic material can disrupt normal development and body function. The syndrome primarily affects brain development and can lead to intellectual disability, developmental delays, speech and language problems, and behavioral difficulties. Some individuals may also have subtle differ
At what age does 19p13.3 microduplication syndrome typically begin?
Typical onset of 19p13.3 microduplication syndrome is infantile. Age of onset can vary across affected individuals.