Overview
Larsen-like syndrome, B3GAT3 type, is a very rare genetic condition that affects the development of bones, joints, and connective tissues throughout the body. It is sometimes called B3GAT3-related disorder or linkeropathy because the B3GAT3 gene plays a key role in building important sugar chains (called glycosaminoglycans) that help form cartilage, bone, and other connective tissues. When this gene does not work properly, the body cannot build these structures correctly. People with this condition are often born with multiple joint dislocations, especially of the hips, knees, and elbows, which is why it resembles classic Larsen syndrome. Other common features include a flat facial appearance, short stature, loose and overly flexible joints, heart defects, and skeletal abnormalities such as curved spine or unusual bone shapes. Some individuals may also have intellectual disability or developmental delays. There is currently no cure for this condition. Treatment focuses on managing symptoms and may include surgeries to correct joint dislocations or heart defects, physical therapy to strengthen muscles and improve mobility, and regular monitoring by a team of specialists. Early diagnosis and coordinated care can help improve quality of life.
Also known as:
Key symptoms:
Multiple joint dislocations present at birthLoose and overly flexible jointsFlat facial appearanceShort statureCurved spine (scoliosis or kyphosis)Heart defects present at birthShort fingers or toesClubfootSoft and stretchy skinDevelopmental delaysIntellectual disability in some casesHearing lossFragile bones or frequent fracturesWide-set eyesBlue tint to the whites of the eyes
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Larsen-like syndrome, B3GAT3 type.
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Specialists
View all specialists →No specialists are currently listed for Larsen-like syndrome, B3GAT3 type.
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 Larsen-like syndrome, B3GAT3 type.
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.How severe is my child's condition, and which organs or systems are affected?,Does my child have any heart defects that need treatment?,What surgeries or procedures might be needed, and when?,How often should we schedule follow-up visits with each specialist?,What physical therapy or rehabilitation programs would benefit my child?,Are there any activities or movements we should avoid to prevent joint injuries?,Since this is a recessive condition, what is the chance of having another affected child, and is prenatal testing available?
Common questions about Larsen-like syndrome, B3GAT3 type
What is Larsen-like syndrome, B3GAT3 type?
Larsen-like syndrome, B3GAT3 type, is a very rare genetic condition that affects the development of bones, joints, and connective tissues throughout the body. It is sometimes called B3GAT3-related disorder or linkeropathy because the B3GAT3 gene plays a key role in building important sugar chains (called glycosaminoglycans) that help form cartilage, bone, and other connective tissues. When this gene does not work properly, the body cannot build these structures correctly. People with this condition are often born with multiple joint dislocations, especially of the hips, knees, and elbows, whi
How is Larsen-like syndrome, B3GAT3 type inherited?
Larsen-like syndrome, B3GAT3 type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Larsen-like syndrome, B3GAT3 type typically begin?
Typical onset of Larsen-like syndrome, B3GAT3 type is neonatal. Age of onset can vary across affected individuals.