Overview
15q overgrowth syndrome is a rare genetic condition caused by having extra genetic material on chromosome 15. Specifically, it involves a duplication (extra copy) of a region on the long arm (called 'q') of chromosome 15. This extra genetic material disrupts normal development and growth, leading to a pattern of features that doctors recognize as an overgrowth syndrome. Children with 15q overgrowth syndrome typically grow faster and larger than expected for their age. They may have a larger-than-average head size (macrocephaly), tall stature, and increased body weight. Many affected individuals also experience intellectual disability or developmental delays, meaning they may take longer to reach milestones like sitting, walking, or talking. Facial features may appear distinctive, and some children have behavioral challenges, including features of autism spectrum disorder. There is currently no cure for 15q overgrowth syndrome. Treatment focuses on managing individual symptoms and supporting development. This may include speech therapy, occupational therapy, physical therapy, and special education services. Regular monitoring by a team of specialists helps ensure that any medical complications are caught and addressed early. Because the condition is so rare, research is still ongoing to better understand its full range of effects and to develop more targeted treatments.
Key symptoms:
Overgrowth or tall stature for ageLarge head sizeIntellectual disabilityDelayed speech and language developmentDelayed motor milestones like walkingDistinctive facial featuresAutism spectrum behaviorsLearning difficultiesLow muscle tone in infancyBehavioral challengesSeizures in some individualsFeeding difficulties in infancyAdvanced bone ageJoint hypermobility or loose joints
Clinical phenotype terms (50)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for 15q overgrowth syndrome.
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Specialists
View all specialists →No specialists are currently listed for 15q overgrowth 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 15q overgrowth 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 chromosome 15q duplication, and what does that mean for their health?,What developmental milestones should we be watching for, and when should we be concerned?,Which therapies and early intervention services do you recommend starting right away?,Should we be screening for seizures, heart problems, or other medical complications?,How often should my child see a geneticist and other specialists for follow-up?,Are there any clinical trials or research studies we could participate in?,What resources or support groups are available for families affected by this condition?
Common questions about 15q overgrowth syndrome
What is 15q overgrowth syndrome?
15q overgrowth syndrome is a rare genetic condition caused by having extra genetic material on chromosome 15. Specifically, it involves a duplication (extra copy) of a region on the long arm (called 'q') of chromosome 15. This extra genetic material disrupts normal development and growth, leading to a pattern of features that doctors recognize as an overgrowth syndrome. Children with 15q overgrowth syndrome typically grow faster and larger than expected for their age. They may have a larger-than-average head size (macrocephaly), tall stature, and increased body weight. Many affected individua
At what age does 15q overgrowth syndrome typically begin?
Typical onset of 15q overgrowth syndrome is neonatal. Age of onset can vary across affected individuals.