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Pyle disease

Disease definition

Pyle disease is a bone dysplasia characterised 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.

ORPHA:3005

  • 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: -

Additional information

Further information on this disease

Specialised Social Services

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