Living with Spondyloepiphyseal dysplasia
A group of genetic bone conditions that affect how the spine, arms, and legs grow.
Understanding Spondyloepiphyseal dysplasia
There are two main forms. One is present at birth (congenita), and one develops later in childhood or the teen years (tarda). Signs can appear at any time in life. Some people also have vision and hearing problems, clubfeet, cleft palate, arthritis, or breathing problems as the spine curves more over time.
Signs & symptoms
GARD doesn't list specific symptoms in a separate list, but the summary describes:
- Differences in how the spine and limbs grow
- Vision and hearing problems
- Feet that turn inward and up (clubfeet)
- Cleft palate
- Arthritis
- Breathing problems as the spine curves
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 genes that help make proteins for healthy bone and cartilage cause these conditions. A new genetic change may cause it, or a parent may pass it down.
Also known as: sed; sed and semd; spondylo-epi-(meta)-physeal dysplasia; spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
Patient organizations
- Little People of AmericaSpondyloepiphyseal dysplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Spondyloepiphyseal dysplasia.
Explore research for Spondyloepiphyseal dysplasia
Explore actively recruiting Spondyloepiphyseal dysplasia studies with HealthSpark.
Find actively recruiting studies for Spondyloepiphyseal dysplasia 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 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
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 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.