Living with Spondyloepiphyseal dysplasia tarda, autosomal dominant
An inherited bone growth condition whose signs usually show by puberty.
Understanding Spondyloepiphyseal dysplasia tarda, autosomal dominant
Signs are usually seen by puberty, but X-rays may show changes earlier. GARD doesn't list specific symptoms for this condition yet.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet.
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.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 Human Growth Foundation 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
Some cases may be caused by changes in the COL2A1 gene. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: autosomal dominant spondyloepiphyseal dysplasia tarda
Patient organizations
- Human Growth FoundationSpondyloepiphyseal dysplasia tarda, autosomal dominant · United States
- Kniest SED GroupSpondyloepiphyseal dysplasia tarda, autosomal dominant · United States
- The MAGIC FoundationSpondyloepiphyseal dysplasia tarda, autosomal dominant · United States
You are more than your diagnosis
Perspectives from people navigating life with Spondyloepiphyseal dysplasia tarda, autosomal dominant.
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