Orphanet: Osteoporosis pseudoglioma syndrome

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Osteoporosis-pseudoglioma syndrome

Disease definition

Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.


Classification level: Disorder
  • Synonym(s):
    • OPPG
    • Ocular form of osteogenesis imperfecta
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q87.5
  • OMIM: 259770
  • UMLS: C0432252
  • MeSH: C536063
  • GARD: 4160
  • MedDRA: 10052452
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