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GTR Home > Conditions/Phenotypes > Metaphyseal chondrodysplasia, Spahr type

Metaphyseal chondrodysplasia, Spahr type

Summary

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. [from ORDO]

Available tests

10 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CLG3, MANDP1, MDST, MMP-13, MMP13
    Summary: matrix metallopeptidase 13

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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