Overview
Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare inherited connective tissue disorder. Connective tissue is like the body's glue — it holds skin, joints, muscles, and organs together. In kEDS, this glue does not work properly, which causes a wide range of problems throughout the body. The condition is also sometimes called EDS type VI or the kyphoscoliotic type of EDS. The most noticeable features of kEDS are a curved spine (kyphoscoliosis) that is present from birth or develops in early childhood, very flexible and unstable joints that dislocate easily, and skin that is soft, stretchy, and bruises easily. Muscles are often weak from infancy, which can delay walking and other motor milestones. Many people with kEDS also have fragile eyes that are at risk of rupture from even minor injury, which is a serious concern. There is currently no cure for kEDS. Treatment focuses on managing symptoms, protecting the eyes and joints, physical therapy to build muscle strength, and monitoring the spine and heart. With careful management, many people with kEDS can lead meaningful lives, though the condition requires lifelong medical attention and support.
Key symptoms:
Curved spine (kyphoscoliosis) present at birth or developing in early childhoodVery loose, flexible joints that dislocate easilyLow muscle tone and muscle weakness, especially in infancySoft, stretchy, fragile skin that bruises easilyFragile eyes that are at risk of serious injury or ruptureDelayed motor milestones such as sitting and walkingChronic joint and muscle painFatigue and low energyHearing loss (more common in the FKBP14 type)Heart valve problems (such as mitral valve prolapse)Difficulty with balance and coordinationFlat feet or other foot deformitiesSkin that heals slowly or scars unusually
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 Kyphoscoliotic Ehlers-Danlos syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Kyphoscoliotic Ehlers-Danlos syndrome at this time.
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Specialists
View all specialists →No specialists are currently listed for Kyphoscoliotic 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 Kyphoscoliotic 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) kEDS — PLOD1 or FKBP14 — and does that change my treatment plan?,How often should I have my eyes, heart, and spine checked, and by which specialists?,What protective measures should I take every day to prevent eye injury?,Is physical therapy recommended, and what type is safest for my joints?,Are there any clinical trials or research studies I should know about?,Should other family members be tested for this condition?,What signs or symptoms should prompt me to go to the emergency room immediately?
Common questions about Kyphoscoliotic Ehlers-Danlos syndrome
What is Kyphoscoliotic Ehlers-Danlos syndrome?
Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare inherited connective tissue disorder. Connective tissue is like the body's glue — it holds skin, joints, muscles, and organs together. In kEDS, this glue does not work properly, which causes a wide range of problems throughout the body. The condition is also sometimes called EDS type VI or the kyphoscoliotic type of EDS. The most noticeable features of kEDS are a curved spine (kyphoscoliosis) that is present from birth or develops in early childhood, very flexible and unstable joints that dislocate easily, and skin that is soft, stretchy,
How is Kyphoscoliotic Ehlers-Danlos syndrome inherited?
Kyphoscoliotic Ehlers-Danlos syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Kyphoscoliotic Ehlers-Danlos syndrome typically begin?
Typical onset of Kyphoscoliotic Ehlers-Danlos syndrome is neonatal. Age of onset can vary across affected individuals.