Living with Steel syndrome
A rare genetic bone condition with short stature, dislocated hips and elbows, and a curved spine.
Understanding Steel syndrome
Babies are born with both hips dislocated, and the elbow bone (radial head) may be out of place. Other features include fused wrist bones, curved spine, high arches, and an unstable top of the neck. Facial features include a broad forehead and nose bridge and a slightly flat midface. Hearing loss in both ears has also been described.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Dislocated hips from birth
- Dislocated elbow bone
- Curved spine (scoliosis)
- Fused wrist bones
- Flat feet
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in COL27A1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Little People of America
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the COL27A1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome; bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome; stls
Patient organizations
- Little People of AmericaSteel syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Steel syndrome.
Explore research for Steel syndrome
Explore actively recruiting Steel syndrome studies with HealthSpark.
Find actively recruiting studies for Steel syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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