Living with Spondyloenchondrodysplasia with immune dysregulation
An inherited condition affecting bone growth and the immune system, with short stature and autoimmune problems.
Understanding Spondyloenchondrodysplasia with immune dysregulation
Signs can appear anytime from infancy to adolescence. Bone and cartilage differences, such as flattened spine bones, contribute to short stature. The immune system may attack the body's own tissues (autoimmune reaction). It may also respond poorly to germs, leading to frequent fevers and lung and airway infections. Some people have nervous system problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Flattened spine bones (platyspondyly)
- Bone changes at the ends of long bones
- Autoimmune problems
- Muscle stiffness or spasms (spasticity)
- Chronic kidney disease
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 autoimmune and inflammatory disease specialists, bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in ACP5 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
- autoimmune and inflammatory disease specialists (rheumatologists); 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 ACP5 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia; roifman immunoskeletal syndrome; roifman-costa syndrome; roifman-melamed syndrome; spencd; spencdi
Patient organizations
- Little People of AmericaSpondyloenchondrodysplasia with immune dysregulation · United States
You are more than your diagnosis
Perspectives from people navigating life with Spondyloenchondrodysplasia with immune dysregulation.
Explore research for Spondyloenchondrodysplasia with immune dysregulation
Explore actively recruiting Spondyloenchondrodysplasia with immune dysregulation studies with HealthSpark.
Find actively recruiting studies for Spondyloenchondrodysplasia with immune dysregulation 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 Spondyloenchondrodysplasia with immune dysregulation 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 Spondyloenchondrodysplasia with immune dysregulation
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 Spondyloenchondrodysplasia with immune dysregulation 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.