Living with Spondyloepiphyseal dysplasia tarda, X-linked
An X-linked bone growth condition, almost only in males, that appears in later childhood with short stature and back pain.
Understanding Spondyloepiphyseal dysplasia tarda, X-linked
It affects the spine and the ends of the long bones. Signs are not present at birth and usually appear between ages 6 and 10. Boys grow steadily until late childhood, and adult height is about 4 feet 6 inches to 5 feet 4 inches. The spine, hips, knees, and shoulders can be affected, and joint arthritis often begins in early adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature with a short torso and neck
- Back pain
- Curved spine (kyphosis or scoliosis)
- Barrel-shaped chest
- Joint pain and limited movement
- Early hip arthritis
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.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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
This condition is X-linked, meaning the gene is on the X chromosome, which is why it occurs almost only in males. GARD doesn't list the gene here.
Also known as: sed tarda, x-linked; sedt - spondyloepiphyseal dysplasia tarda; spondyloepiphyseal dysplasia tarda, x-linked recessive
Patient organizations
- Little People of AmericaSpondyloepiphyseal dysplasia tarda, X-linked · United States
- Arthritis FoundationSpondyloepiphyseal dysplasia tarda, X-linked · United States
- Human Growth FoundationSpondyloepiphyseal dysplasia tarda, X-linked · United States
- Kniest SED GroupSpondyloepiphyseal dysplasia tarda, X-linked · United States
- The MAGIC FoundationSpondyloepiphyseal dysplasia tarda, X-linked · United States
You are more than your diagnosis
Perspectives from people navigating life with Spondyloepiphyseal dysplasia tarda, X-linked.
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