Overview
Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency (also called kEDS-FKBP14 type) is a very rare inherited connective tissue disorder. It belongs to the broader group of Ehlers-Danlos syndromes (EDS), which affect the body's connective tissue — the material that holds together skin, joints, muscles, blood vessels, and organs. This specific type is caused by problems with the FKBP14 gene, which provides instructions for making a protein called FKBP22 that helps collagen fold properly. People with this condition typically show signs from birth or early infancy. Key features include severe muscle weakness (hypotonia) at birth, progressive curvature of the spine (kyphoscoliosis), very stretchy and fragile skin that bruises easily, and joints that are overly flexible (hypermobile). Many patients also experience hearing loss, which can be sensorineural (related to the inner ear or nerve). Some individuals may develop problems with blood vessels or have eye-related issues. There is currently no cure for this condition. Treatment focuses on managing symptoms and preventing complications. This may include physical therapy to strengthen muscles, bracing or surgery for spinal curvature, hearing aids for hearing loss, and careful monitoring of the heart and blood vessels. A team of specialists working together provides the best care for affected individuals.
Also known as:
Key symptoms:
Severe muscle weakness at birth (floppy baby)Progressive curvature of the spine (kyphoscoliosis)Very stretchy or elastic skinSkin that bruises easilyFragile skin that tears or scars easilyOverly flexible joints (joint hypermobility)Hearing loss, often sensorineuralDelayed motor milestones like sitting and walkingMuscle wasting or underdeveloped musclesFlat feetFrequent joint dislocations or subluxationsVelvety or soft skin textureAbnormal wound healing with wide scarsPossible blood vessel fragility
Clinical phenotype terms (23)— 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 due to FKBP22 deficiency.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency.
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 due to FKBP22 deficiency.
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 spinal curvature, and what is the plan for monitoring or treating it?,What type of physical therapy is best for building strength while protecting fragile joints?,How often should hearing tests and heart evaluations be done?,Are there any activities or sports that should be avoided to prevent injury?,What should I do in an emergency if I suspect a blood vessel problem?,Should other family members be tested to see if they are carriers?,Are there any clinical trials or new research studies we should know about?
Common questions about Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
What is Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency?
Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency (also called kEDS-FKBP14 type) is a very rare inherited connective tissue disorder. It belongs to the broader group of Ehlers-Danlos syndromes (EDS), which affect the body's connective tissue — the material that holds together skin, joints, muscles, blood vessels, and organs. This specific type is caused by problems with the FKBP14 gene, which provides instructions for making a protein called FKBP22 that helps collagen fold properly. People with this condition typically show signs from birth or early infancy. Key features include
How is Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency inherited?
Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency 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 due to FKBP22 deficiency typically begin?
Typical onset of Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency is neonatal. Age of onset can vary across affected individuals.