Metaphyseal chondrodysplasia, Spahr type

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A rare genetic primary bone dysplasia disease characterized by usually moderate postnatal short stature progressive genu vara deformity a waddling gait and radiological signs of metaphyseal dysplasia (i.e. irregular sclerotic and widened metaphyses) in the absence of biochemical abnormalities suggestive of rickets disease. Intermittent knee pain lordosis and delayed motor development may also occasionally be 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 July 2024

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Metaphyseal chondrodysplasia, Spahr type?

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