Living with Spondyloepiphyseal dysplasia with metatarsal shortening
An inherited condition with joint pain starting in late childhood, early arthritis, and short toes.
Understanding Spondyloepiphyseal dysplasia with metatarsal shortening
Joint pain begins in late childhood or the teen years. Cartilage in the hips, knees, shoulders, and spine usually wears down over time (osteoarthritis), which may limit movement. Some people need joint replacement in early adulthood. The third and fourth toes are often short, and some people have progressive hearing loss.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Joint pain
- Limited joint movement
- Short third and fourth toes
- Flattened spine bones (platyspondyly)
- Curved spine (scoliosis)
- Hearing loss that worsens over time
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 COL2A1 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 COL2A1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: czech dysplasia; czech dysplasia metatarsal type; czech dysplasia, metatarsal type; pseudorheumatoid dysplasia progressive, with hypoplastic toes; pseudorheumatoid dysplasia, progressive, with hypoplastic toes; sed with metatarsal shortening
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 metatarsal shortening.
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