Overview
Spondylodysplastic Ehlers-Danlos syndrome (spEDS) is a rare inherited connective tissue disorder. Connective tissue is the 'glue' that holds the body together — it supports skin, bones, joints, blood vessels, and organs. In spEDS, a genetic change causes problems with how the body builds and maintains this tissue, leading to a wide range of symptoms affecting the skeleton, joints, skin, and sometimes the eyes and muscles. The most recognizable features of spEDS include short stature, bowing of the arm and leg bones, and a flattening of the spinal bones (called platyspondyly). People with spEDS also tend to have very flexible joints, skin that stretches more than usual or bruises easily, and reduced muscle tone (hypotonia), especially in infancy. Some individuals experience delayed motor development, meaning they may take longer to sit, stand, or walk as babies. There is currently no cure for spEDS. Treatment focuses on managing symptoms and improving quality of life. This may include physical therapy to strengthen muscles and protect joints, orthopedic care for bone and spine problems, and regular monitoring by a team of specialists. With the right support, many people with spEDS can lead meaningful and active lives, though the level of impact varies from person to person.
Also known as:
Key symptoms:
Short statureBowing of the arms and legsFlattened or compressed spinal bones (platyspondyly)Overly flexible joints (joint hypermobility)Skin that stretches more than normal or bruises easilyLow muscle tone (hypotonia), especially in babiesDelayed motor milestones such as sitting or walking lateOsteoporosis or fragile bonesFlat feetMild intellectual disability in some individualsEye problems such as myopia (nearsightedness) or blue-tinted whites of the eyesMuscle weakness
Clinical phenotype terms (50)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Spondylodysplastic Ehlers-Danlos syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Spondylodysplastic Ehlers-Danlos syndrome at this time.
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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 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 gene is causing my (or my child's) condition, and what does that mean for the severity and progression?,What specialists should be part of our care team, and how often should we see each one?,Are there specific activities or sports that should be avoided to protect the joints and spine?,What signs of spinal instability should I watch for, and when should I go to the emergency room?,Should we test other family members, and what is the chance of passing this on to future children?,Are there any clinical trials or research studies we could participate in?,What can we do now to protect bone density and prevent fractures long-term?
Common questions about Spondylodysplastic Ehlers-Danlos syndrome
What is Spondylodysplastic Ehlers-Danlos syndrome?
Spondylodysplastic Ehlers-Danlos syndrome (spEDS) is a rare inherited connective tissue disorder. Connective tissue is the 'glue' that holds the body together — it supports skin, bones, joints, blood vessels, and organs. In spEDS, a genetic change causes problems with how the body builds and maintains this tissue, leading to a wide range of symptoms affecting the skeleton, joints, skin, and sometimes the eyes and muscles. The most recognizable features of spEDS include short stature, bowing of the arm and leg bones, and a flattening of the spinal bones (called platyspondyly). People with spED
How is Spondylodysplastic Ehlers-Danlos syndrome inherited?
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 Spondylodysplastic Ehlers-Danlos syndrome typically begin?
Typical onset of Spondylodysplastic Ehlers-Danlos syndrome is infantile. Age of onset can vary across affected individuals.
Which specialists treat Spondylodysplastic Ehlers-Danlos syndrome?
15 specialists and care centers treating Spondylodysplastic Ehlers-Danlos syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.