Living with Spondyloepiphyseal dysplasia with congenital joint dislocations
A genetic bone and joint condition with short stature and joint dislocations present at birth.
Understanding Spondyloepiphyseal dysplasia with congenital joint dislocations
People have short stature throughout life, with an adult height under 4 and a half feet. Dislocated joints are present at birth, most often in the knees, hips, and elbows. Other features include clubfoot, limited movement in large joints, and a curved spine. It is also called CHST3-related skeletal dysplasia. Minor heart defects have been reported in a few people.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature with a short trunk
- Joint dislocations at birth
- Joint pain and enlarged joints
- Curved spine (kyphoscoliosis)
- Knock knees
- Delayed motor skills
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 CHST3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 CHST3 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: carbohydrate sulfotransferase 3 related skeletal dysplasia; chondrodysplasia with congenital joint dislocations, chst3 type; chondrodysplasia with multiple dislocations; chst3-related skeletal dysplasia; humero-spinal dysostosis; humero-spinal dysostosis with congenital heart disease
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Spondyloepiphyseal dysplasia with congenital joint dislocations.
Explore research for Spondyloepiphyseal dysplasia with congenital joint dislocations
Explore actively recruiting Spondyloepiphyseal dysplasia with congenital joint dislocations studies with HealthSpark.
Find actively recruiting studies for Spondyloepiphyseal dysplasia with congenital joint dislocations 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 with congenital joint dislocations 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 with congenital joint dislocations
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 with congenital joint dislocations 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.