Overview
Steel syndrome is an extremely rare genetic condition that primarily affects the bones and joints. It was first described by Dr. Howard Steel and is characterized by a combination of skeletal abnormalities including hip dislocations present from birth, problems with the bones of the spine (scoliosis and cervical spine abnormalities), short stature, and distinctive facial features. People with Steel syndrome often have limited movement in their joints, particularly in the hips, and may develop problems with the way their bones grow and align over time. The condition is caused by changes (mutations) in the COL27A1 gene, which provides instructions for making a type of collagen — an important protein that gives structure and strength to bones, cartilage, and other connective tissues. When this gene does not work properly, the body cannot build these tissues correctly, leading to the skeletal problems seen in the syndrome. Because Steel syndrome is so rare, treatment is mainly focused on managing symptoms. Orthopedic care is central to treatment, and patients may need surgeries to address hip dislocations, scoliosis, or other bone and joint problems. Physical therapy can help maintain mobility and strength. There is currently no cure or disease-modifying therapy available. Regular monitoring by a team of specialists is important to catch and address complications early.
Also known as:
Key symptoms:
Hip dislocations present at birthShort statureScoliosis (curved spine)Cervical spine abnormalitiesLimited range of motion in jointsDistinctive facial featuresFlat facial profileShort neckAbnormal development of the long bonesJoint stiffnessMild hearing loss in some casesBroad or flat nose bridge
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 Steel syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Steel syndrome at this time.
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Specialists
View all specialists →No specialists are currently listed for Steel 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 Steel 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.How severe are my child's skeletal abnormalities, and what is the expected course over time?,Is surgery needed for the hip dislocations or scoliosis, and what are the risks and benefits?,How often should we have imaging of the spine to check for instability?,What physical therapy or exercises are recommended to maintain mobility?,Should my child's hearing be tested regularly?,Are there any activities or movements my child should avoid to protect the spine?,Are there any clinical trials or research studies we could participate in?
Common questions about Steel syndrome
What is Steel syndrome?
Steel syndrome is an extremely rare genetic condition that primarily affects the bones and joints. It was first described by Dr. Howard Steel and is characterized by a combination of skeletal abnormalities including hip dislocations present from birth, problems with the bones of the spine (scoliosis and cervical spine abnormalities), short stature, and distinctive facial features. People with Steel syndrome often have limited movement in their joints, particularly in the hips, and may develop problems with the way their bones grow and align over time. The condition is caused by changes (mutat
How is Steel syndrome inherited?
Steel syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Steel syndrome typically begin?
Typical onset of Steel syndrome is neonatal. Age of onset can vary across affected individuals.