multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
Findings
No curated finding names multiple epiphyseal dysplasia, with severe proximal femoral dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.
Definition from the Mondo Disease Ontology (MONDO:0012253), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of