multiple epiphyseal dysplasia, with severe proximal femoral dysplasia https://www.malacards.org/card/epiphyseal_dysplasia_multiple_with_severe_proximal_femoral_dysplasia MEDGEN:324484 MONDO:0012253 Orphanet:166029 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. UMLS:C1836315 OMIM:609324 MESH:C563736 GARD:0017015 multiple epiphyseal dysplasia