metaphyseal dysplasia

Summary
Synonym
  • Bakwin-Krida syndrome
  • Pyle's disease
  • Pyle-Cohn syndrome
Definition
An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone.
Super Class
osteochondrodysplasia
Disease Ontology
DOID:0080019
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6424 SFRP4 secreted frizzled related protein 4
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q6FHJ7 Secreted frizzled-related protein 4

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025