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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.

ORPHA:2801

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: -

  A summary on this disease is available in Español (2016) Italiano (2016) Nederlands (2016)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.