Pyle disease

Orpha code: 3005OMIM code: 265900

Definition

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.

Disease data
Classification

Disease

Synonyms
Metaphyseal dysplasia, Pyle type
Dysplazja przynasadowa, typu Pyle'a
ORPHA code
3005
OMIM code
265900
ICD10 code
Q78.5
ICD11 code
LD24.1Y 

No additional description.

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