MeSH Browser

MeSH Supplementary: Pyle disease
Unique ID: C536252
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536252
Entry Term(s): Edwin Pyle disease; Metaphyseal dysplasia; Metaphyseal dysplasia with little involvement of the cranial bones
Heading Mapped to: *Osteochondrodysplasias
Frequency: 82
Note: A hereditary disorder associated with mutations in the SFRP4 gene and characterized by long bones with wide and expanded trabecular metaphyses (wide portions of long bones between the EPIPHYSES and the DIAPHYSES), thin cortical bone, and bone fragility. Fractures through the abnormal metaphyses are common, as is GENU VALGUM. OMIM: 265900
Date of Entry: 2010/08/25
Revision Date: 2016/09/29

Pyle disease MeSH Supplementary Concept Data 2024