Living with Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
A rare genetic bone condition with short limbs, a narrow chest, and calcium buildup in cartilage.
Understanding Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
People have short arms and legs, short broad fingers, and a narrow chest with rib differences. Cartilage in places such as the voice box, windpipe, and ribs can calcify (harden). Facial features include a high forehead, wide-set eyes, and a short flat nose. The top neck bones may be unstable, which can press on the spinal cord, and lung infections can recur. Signs may begin in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Disproportionate short stature with short limbs
- Short, broad fingers and broad palms
- Narrow chest with rib differences
- Calcium in cartilage
- Low muscle tone and delayed movement skills
- Unstable top neck bones (C1-C2)
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 DDR2 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 Kniest SED Group
- 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 DDR2 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: smed short limb-abnormal calcification type; smed short limb-hand type; smed type 2; smed-sl; smed-sl/ac; smed, type ii
Patient organizations
- Kniest SED GroupSpondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome.
Explore research for Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Explore actively recruiting Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome studies with HealthSpark.
Find actively recruiting studies for Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome 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 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome 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 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
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 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome 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.