Radiology

Understanding Your Imaging and Genetic Reports

At a Glance

Multiple Epiphyseal Dysplasia (MED) is diagnosed primarily through X-rays showing flattened bone ends (epiphyses). Genetic testing can identify the specific subtype, but a negative genetic report does not rule out MED, as 10-20% of cases have no identifiable mutation.

Navigating the diagnosis of Multiple Epiphyseal Dysplasia (MED) often involves two main sets of documents: your radiology reports (imaging) and your genetic reports (DNA testing). Understanding these reports helps you and your care team create a more precise management plan.

Reading Your X-rays

The diagnosis of MED is often first suspected and established through radiographic pattern recognition—the process of identifying specific bone shapes that are hallmarks of the condition ^[1]^[2].

What the Radiologist Looks For

Flattened Epiphyses: The most common sign of MED is that the epiphyses (the rounded ends of the long bones, especially at the hips and knees) look flattened or “squashed” rather than smooth and rounded ^[1]^[3].
Irregular Ossification: The “ossification centers,” or the areas where bone first begins to harden from cartilage, may look fragmented or “dotted” instead of solid ^[1].
Double-Layered Patella: In some cases—particularly in the recessive (SLC26A2) form of MED—the kneecap (patella) may appear on a side-view X-ray as if it has two layers of bone stacked on top of each other ^[4]^[5].

Decoding Your Genetic Report

A genetic report identifies the subtype by finding a “typo” in the DNA that causes the structural changes seen on X-rays ^[6]. However, remember that MED is fundamentally diagnosed by X-rays and symptoms; a negative genetic report does not mean you do not have MED, as 10-20% of cases do not have an identifiable mutation ^[7].

Common Genetic Terms

Pathogenic / Likely Pathogenic: These terms mean the laboratory is confident (usually 90% or higher) that this specific genetic change is the cause of the MED ^[8]^[9].
Variant of Uncertain Significance (VUS): This is a “maybe” result. It means a change was found, but science doesn’t yet have enough data to say for sure if it causes MED or is just a normal variation ^[10].
Heterozygous: You have one mutated copy and one normal copy of the gene. This is standard for the dominant forms of MED ^[11].
Homozygous: You have two identical mutated copies of the gene (one from each parent). This is typical for the recessive form (Type 4) of MED ^[11].

Checklist for a Complete Diagnostic Report

A comprehensive diagnostic report should be a clear “roadmap” of your condition. Ensure your records contain the following:

[ ] Specific Gene Name: Clearly identifies the gene involved (e.g., COMP, MATN3, SLC26A2), if one was found ^[6].
[ ] Variant Classification: Uses standard terms like “Pathogenic” or “Likely Pathogenic” ^[12].
[ ] Joint-Specific Findings: Describes the condition of specific joints, especially the hips and knees ^[3].
[ ] Expert Review: Confirmation that the results were reviewed by a specialist in skeletal dysplasias ^[13].
[ ] Management Context: A summary of how these results explain your physical symptoms, such as joint pain or gait ^[14].

Because genetic science evolves quickly, it is often recommended to have these reports re-evaluated by a specialist every few years, especially if a VUS was originally found ^[15]^[16].

Common questions in this guide

What does a flattened epiphysis mean on my X-ray?

A flattened epiphysis is the most common diagnostic sign of MED. It means that the rounded ends of your long bones, particularly at the hips and knees, appear squashed rather than smooth and rounded on an X-ray.

Can I still have MED if my genetic test is negative?

Yes, you can still have MED with a negative genetic test. Between 10 and 20 percent of cases do not have an identifiable genetic mutation, which is why the condition is fundamentally diagnosed using X-rays and physical symptoms.

What does a Variant of Uncertain Significance (VUS) mean?

A VUS means a genetic change was found, but scientists do not yet have enough evidence to know for sure if it causes MED or if it is just a normal variation. It is recommended to have a VUS re-evaluated every few years as genetic research evolves.

What does it mean if my X-ray shows a double-layered patella?

A double-layered patella is an X-ray finding where the kneecap appears to have two layers of bone stacked on top of each other. This specific feature is often associated with the recessive form of MED, linked to the SLC26A2 gene.

Curated prompts to bring to your next appointment.

1.Does the flatness of the epiphyses on the X-rays correlate with the specific gene variant found in the genetic report?
2.On the knee X-rays, was a 'double-layered patella' present, and how does that affect the diagnosis?
3.If a Variant of Uncertain Significance (VUS) was found, how are you using clinical symptoms and X-rays to determine if it is truly the cause of MED?
4.What is the recommended timing for re-evaluating this genetic report as new research on these variants becomes available?
5.Is our diagnostic report comprehensive enough to be shared with other specialists, such as a physical therapist or adult orthopedic surgeon?

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

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This guide helps explain Multiple Epiphyseal Dysplasia (MED) imaging and genetic terminology for educational purposes. Your geneticist and orthopedic specialist are the best sources for interpreting your specific test results.

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