Living with Autosomal recessive spondylocostal dysostosis
A rare inherited condition of the spine and ribs, usually seen at birth.
Understanding Autosomal recessive spondylocostal dysostosis
Signs are usually present at birth. They can include a short trunk with normal-length arms and legs, a small chest, spine bones that are misshapen or fused, and ribs fused where they meet the spine. It is sometimes called Jarcho-Levin syndrome.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Spine bones that did not form normally
- Fused ribs
- Short chest area (short thorax)
- Scoliosis and hunched back (kyphosis)
- Short stature and short neck
- Trouble breathing (respiratory insufficiency)
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.
- 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
- 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 and other patient organizations
- 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
It is caused by changes in the MESP2 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: spondylocostal dysostosis, autosomal recessive
Patient organizations
- Little People of AmericaAutosomal recessive spondylocostal dysostosis · United States
- The MAGIC FoundationAutosomal recessive spondylocostal dysostosis · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive spondylocostal dysostosis.
Explore research for Autosomal recessive spondylocostal dysostosis
Explore actively recruiting Autosomal recessive spondylocostal dysostosis studies with HealthSpark.
Find actively recruiting studies for Autosomal recessive spondylocostal dysostosis 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 Autosomal recessive spondylocostal dysostosis 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 Autosomal recessive spondylocostal dysostosis
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 Autosomal recessive spondylocostal dysostosis 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.