Overview
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome (spEDS-B4GALT7) is a rare inherited connective tissue disorder caused by changes in the B4GALT7 gene. This condition belongs to the Ehlers-Danlos syndrome (EDS) family of diseases, which affect the body's connective tissue — the 'glue' that holds skin, joints, bones, and organs together. It is also sometimes called B4GALT7-EDS, galactosyltransferase I deficiency, or Larsen of Reunion Island syndrome, named after a cluster of cases identified on Réunion Island. The disease mainly affects the skeleton, skin, and joints. People with this condition often have short stature, unusually flexible joints, fragile or stretchy skin, and skeletal differences that can be seen on X-rays. Muscle tone may be low at birth, and some individuals have mild intellectual disability or developmental delays. The face may have distinctive features, and some people develop eye problems. There is currently no cure for spEDS-B4GALT7. Treatment focuses on managing symptoms, preventing joint injuries, supporting development, and improving quality of life. A team of specialists — including geneticists, orthopedic doctors, physical therapists, and others — typically works together to care for people with this condition. Early diagnosis and a coordinated care plan can make a meaningful difference in daily life and long-term outcomes.
Also known as:
Key symptoms:
Short stature (being much shorter than expected for age)Overly flexible or loose joints (joint hypermobility)Stretchy or fragile skin that bruises easilyLow muscle tone (floppiness), especially in infancySkeletal differences visible on X-rays, including flat or irregular vertebraeDistinctive facial features such as a flat face, wide-set eyes, or a small chinDelayed motor development (sitting, standing, walking later than usual)Mild intellectual disability or learning difficulties in some individualsEye problems, including nearsightedness or other vision issuesJoint dislocations or instabilityDelayed bone age (bones developing more slowly than expected)Broad or short hands and feet
Clinical phenotype terms (37)— 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 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome at this time.
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Specialists
View all specialists →No specialists are currently listed for B4GALT7-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 B4GALT7-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.What specific changes were found in my (or my child's) B4GALT7 gene, and what do they mean for our family?,Should other family members be tested for this condition?,What specialists should be part of our care team, and how often should we see each one?,What physical activities are safe, and which ones should be avoided to protect the joints?,Are there any clinical trials or research studies we could participate in?,What signs or symptoms should prompt an emergency visit or urgent call to the doctor?,What educational or developmental support services are available for my child?
Common questions about B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
What is B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome?
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome (spEDS-B4GALT7) is a rare inherited connective tissue disorder caused by changes in the B4GALT7 gene. This condition belongs to the Ehlers-Danlos syndrome (EDS) family of diseases, which affect the body's connective tissue — the 'glue' that holds skin, joints, bones, and organs together. It is also sometimes called B4GALT7-EDS, galactosyltransferase I deficiency, or Larsen of Reunion Island syndrome, named after a cluster of cases identified on Réunion Island. The disease mainly affects the skeleton, skin, and joints. People with this
How is B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome inherited?
B4GALT7-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 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome typically begin?
Typical onset of B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome is neonatal. Age of onset can vary across affected individuals.