Living with Spondyloepiphyseal dysplasia congenita
A genetic bone condition with short stature, a short torso, and spine, hip, vision, and hearing problems.
Understanding Spondyloepiphyseal dysplasia congenita
The torso, arms, and legs are short, while hands and feet are average size. Adult height ranges from about 3 feet to almost 5 feet. The spine may curve more over childhood, and unstable neck bones can raise the risk of spinal cord damage. Arthritis often starts early, and some people have vision and hearing problems. Signs are often seen at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short torso and short stature
- Curved spine (scoliosis or kyphosis)
- Flattened spine bones (platyspondyly)
- Hip pain and hip joint changes
- Knock knees
- Early arthritis and less joint movement
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 COL2A1 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 COL2A1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: congenital spondyloepiphyseal dysplasia; sed - spondyloepiphyseal dysplasia; sed congenita; sedc; sedc - spondyloepiphyseal dysplasia congenita; spondyloepiphyseal dysplasia congenita group
Patient organizations
- Little People of AmericaSpondyloepiphyseal dysplasia congenita · United States
You are more than your diagnosis
Perspectives from people navigating life with Spondyloepiphyseal dysplasia congenita.
Explore research for Spondyloepiphyseal dysplasia congenita
Explore actively recruiting Spondyloepiphyseal dysplasia congenita studies with HealthSpark.
Find actively recruiting studies for Spondyloepiphyseal dysplasia congenita 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Spondyloepiphyseal dysplasia congenita studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Spondyloepiphyseal dysplasia congenita
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Spondyloepiphyseal dysplasia congenita experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.