Overview
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (also called spEDS-B3GALT6, or sometimes referred to as EDSSPD2 or spondylodysplastic EDS type 2) is a rare inherited connective tissue disorder caused by changes (mutations) in the B3GALT6 gene. Connective tissue is like the body's scaffolding — it holds bones, skin, joints, and organs together. When this gene does not work properly, the body cannot build a key sugar chain (called a glycosaminoglycan) that is essential for strong, flexible connective tissue. This leads to problems throughout the body. People with this condition are often born with or develop short stature, weak muscle tone (hypotonia), very flexible or unstable joints, and skin that is stretchy, fragile, or heals poorly. The spine and other bones may be shaped differently than usual, which is why 'spondylodysplastic' (meaning abnormal bone development) is part of the name. Some individuals also experience delayed development, intellectual disability, and eye problems. There is currently no cure for this condition. Treatment focuses on managing symptoms, protecting joints, supporting development, and preventing complications. A team of specialists works together to help patients live as comfortably and independently as possible. Early diagnosis is important because it allows families to plan the right therapies and monitoring from the start.
Also known as:
Key symptoms:
Short stature or slow growthWeak muscle tone (floppy muscles), especially in infancyVery flexible, loose, or unstable jointsSkin that is stretchy, thin, or fragilePoor wound healing or unusual scarringAbnormal spine shape (such as scoliosis or kyphosis)Bone shape differences visible on X-rayDelayed motor development (sitting, walking later than expected)Intellectual disability or learning difficulties (in some patients)Eye problems such as myopia (nearsightedness) or corneal issuesFlat feet or other foot deformitiesJoint pain or frequent joint dislocationsSmall hands and feetDental problems including crowded or fragile teeth
Clinical phenotype terms (50)— hover any for plain English
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 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for B3GALT6-related spondylodysplastic Ehlers-Danlos 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 B3GALT6-related spondylodysplastic Ehlers-Danlos 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.Which specialists should be part of my care team, and how often should I see each one?,What specific signs of spinal instability or cord compression should I watch for, and when should I go to the emergency room?,Should other family members be tested for the B3GALT6 gene mutation?,What physical activities are safe, and which ones should I avoid to protect my joints?,Are there any clinical trials or research studies I could participate in?,What educational or developmental supports should my child receive?,How will this condition change over time, and what complications should we plan for?
Common questions about B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
What is B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome?
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (also called spEDS-B3GALT6, or sometimes referred to as EDSSPD2 or spondylodysplastic EDS type 2) is a rare inherited connective tissue disorder caused by changes (mutations) in the B3GALT6 gene. Connective tissue is like the body's scaffolding — it holds bones, skin, joints, and organs together. When this gene does not work properly, the body cannot build a key sugar chain (called a glycosaminoglycan) that is essential for strong, flexible connective tissue. This leads to problems throughout the body. People with this condition are of
How is B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome inherited?
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome typically begin?
Typical onset of B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome is neonatal. Age of onset can vary across affected individuals.