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

Metaphyseal chondrodysplasia, Jansen type

Synonyms
Metaphyseal chondrodysplasia Murk Jansen type
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

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

40 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (40 available)

Molecular Genetics 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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Imported from Human Phenotype Ontology (HPO)

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