Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia

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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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version May 2024

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Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia?

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