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Pyle disease

Disease Export to PDF
Name:
Pyle disease
Description:
A rare bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.
ORPHAcode:
3005
Synonyms:
Metaphyseal dysplasia, Pyle type
XREF(s):
Orphanet
MeSH
OMIM
ICD-10
Analyte(s):
SFRP4
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14