Metaphyseal chondrodysplasia Spahr type

Alternate names[edit | edit source]

Spahr type Metaphyseal chondrodysplasia; MCDS

Definition[edit | edit source]

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.

NIH genetic and rare disease info[edit source]

NIH info on Metaphyseal chondrodysplasia Spahr type

Metaphyseal chondrodysplasia Spahr type is a rare disease.

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