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Juvenile Paget disease

Disease definition

Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.


Classification level: Disorder
  • Synonym(s):
    • Familial osteoectasia
    • Hereditary hyperphosphatasia
    • Hyperostosis corticalis deformans juvenilis
    • JPG
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: M88.0  M88.8  M88.9
  • ICD-11: FB85.0
  • OMIM: 239000
  • UMLS: C0268414
  • MeSH: C537701
  • GARD: 2831
  • MedDRA: -
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