Overview
Arthrogryposis-severe scoliosis syndrome is a rare condition present from birth that combines two major physical features: arthrogryposis and severe scoliosis. Arthrogryposis means that multiple joints in the body are stiff and fixed in abnormal positions, often because the muscles and connective tissues around those joints did not develop normally before birth. Scoliosis refers to an abnormal sideways curve of the spine. In this syndrome, the scoliosis is particularly severe and can progress over time. Together, these features can significantly affect how a person moves, breathes, and grows. People with this syndrome are typically identified at birth or even before birth through ultrasound. The stiff joints most commonly affect the arms, legs, hands, and feet, making movement difficult. The severe spinal curve can put pressure on the lungs and heart as the child grows, which is an important concern for long-term health. Treatment focuses on managing symptoms and improving quality of life. This may include physical therapy, bracing, and surgery to correct joint positions or stabilize the spine. A team of specialists is usually needed to provide the best care. There is currently no cure, but early and consistent treatment can make a meaningful difference in daily function and comfort.
Key symptoms:
Multiple stiff joints present from birthJoints fixed in bent or straightened positionsSevere sideways curvature of the spine (scoliosis)Limited range of motion in arms and legsMuscle weakness or underdeveloped musclesClubfoot or other foot deformitiesDifficulty breathing if the spine curve affects the chestAbnormal posture or body alignmentFeeding difficulties in newbornsDelayed motor milestones such as sitting or walking
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Arthrogryposis-severe scoliosis syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Arthrogryposis-severe scoliosis 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 Arthrogryposis-severe scoliosis 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 is causing my child's joint stiffness and spinal curve — has a genetic cause been found?,What type of genetic testing do you recommend, and what might the results tell us?,How severe is the scoliosis, and how quickly might it progress?,When should we consider surgery, and what are the risks and benefits?,What therapies should we start right away, and how often should they happen?,Are there any risks to my child's breathing or heart that we need to monitor closely?,Are there clinical trials or research studies that my child might be eligible for?
Common questions about Arthrogryposis-severe scoliosis syndrome
What is Arthrogryposis-severe scoliosis syndrome?
Arthrogryposis-severe scoliosis syndrome is a rare condition present from birth that combines two major physical features: arthrogryposis and severe scoliosis. Arthrogryposis means that multiple joints in the body are stiff and fixed in abnormal positions, often because the muscles and connective tissues around those joints did not develop normally before birth. Scoliosis refers to an abnormal sideways curve of the spine. In this syndrome, the scoliosis is particularly severe and can progress over time. Together, these features can significantly affect how a person moves, breathes, and grows.
At what age does Arthrogryposis-severe scoliosis syndrome typically begin?
Typical onset of Arthrogryposis-severe scoliosis syndrome is neonatal. Age of onset can vary across affected individuals.