Orphanet: Pyle disease

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Pyle disease

Disease 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.


Classification level: Disorder
  • Synonym(s):
    • Metaphyseal dysplasia, Pyle type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q78.5
  • OMIM: 265900
  • UMLS: C0265294
  • MeSH: C536252
  • GARD: 4612
  • MedDRA: -
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