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

Summary

The Murk Jansen type of metaphyseal chondrodysplasia is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and small mandible. Hypercalcemia and hypophosphatemia occur despite the lack of parathyroid abnormalities (summary by Cohen, 2002). [from OMIM]

Available tests

39 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: EKNS, PFE, PTHR, PTHR1, PTH1R
    Summary: parathyroid hormone 1 receptor

Clinical features

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