Overview
Overgrowth syndrome with 2q37 translocation is a very rare genetic condition caused by a change in chromosome 2 at a specific location called 2q37. This chromosomal rearrangement — called a translocation — means that a piece of chromosome 2 has broken off and attached to another chromosome, or has been rearranged in a way that disrupts normal gene activity. The result is a pattern of overgrowth, meaning the body or certain body parts grow larger or faster than expected, along with a range of developmental and physical differences. People with this condition often show signs from birth or early childhood. Common features include being larger than average at birth, having intellectual disability or developmental delays, and showing differences in facial appearance. Some individuals also have differences in the structure of their hands, feet, or other body parts. The condition can also affect learning, behavior, and communication skills. There is currently no cure for this condition. Care focuses on managing symptoms and supporting development. This usually involves a team of specialists working together, including geneticists, developmental pediatricians, and therapists. Early intervention — such as speech, occupational, and physical therapy — can make a meaningful difference in quality of life and development.
Key symptoms:
Larger than average body size or height (overgrowth)Intellectual disability or learning difficultiesDevelopmental delays, such as late talking or walkingDistinctive facial featuresDifferences in the shape or size of hands and feetBehavioral challengesSpeech and language delaysLow muscle tone (floppiness) in infancyDifferences in head size or shape
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Overgrowth syndrome with 2q37 translocation.
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Specialists
View all specialists →No specialists are currently listed for Overgrowth syndrome with 2q37 translocation.
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 Overgrowth syndrome with 2q37 translocation.
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 specific chromosomal change does my child have, and which genes might be affected?,Should other family members be tested for this chromosomal rearrangement?,What therapies do you recommend starting right away, and how often should they happen?,Are there any medical complications I should watch for as my child grows?,How will this condition affect my child's learning and development long-term?,Are there any clinical studies or registries we can participate in to help advance research?,What support services or early intervention programs are available in our area?
Common questions about Overgrowth syndrome with 2q37 translocation
What is Overgrowth syndrome with 2q37 translocation?
Overgrowth syndrome with 2q37 translocation is a very rare genetic condition caused by a change in chromosome 2 at a specific location called 2q37. This chromosomal rearrangement — called a translocation — means that a piece of chromosome 2 has broken off and attached to another chromosome, or has been rearranged in a way that disrupts normal gene activity. The result is a pattern of overgrowth, meaning the body or certain body parts grow larger or faster than expected, along with a range of developmental and physical differences. People with this condition often show signs from birth or earl
How is Overgrowth syndrome with 2q37 translocation inherited?
Overgrowth syndrome with 2q37 translocation follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Overgrowth syndrome with 2q37 translocation typically begin?
Typical onset of Overgrowth syndrome with 2q37 translocation is neonatal. Age of onset can vary across affected individuals.