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GTR Home > Conditions/Phenotypes > Pyle metaphyseal dysplasia

Pyle metaphyseal dysplasia

Synonyms
Metaphyseal dysostosis; Pyle disease; Pyle's disease
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Pyle disease is characterized by long bones with wide and expanded trabecular metaphyses, thin cortical bone, and bone fragility. Fractures are common in Pyle disease, and fracture lines usually go through the abnormally wide metaphyses, revealing their fragility (summary by Kiper et al., 2016). [from OMIM]

Available tests

5 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FRP-4, FRPHE, FRZB-2, PYL, sFRP-4, SFRP4
    Summary: secreted frizzled related protein 4

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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