Orphanet: Osteogenesis imperfecta type 5
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Osteogenesis imperfecta type 5

Disease definition

A moderate form of osteogenesis imperfecta characterized by increased bone fragility and low bone mass that clinically manifests with susceptibility to bone fractures of variable severity, short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and absence of dentinogenesis imperfect.

ORPHA:216828

Classification level: Subtype of disorder
  • Synonym(s):
    • OI type 5
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q78.0
  • OMIM: 610967
  • UMLS: C1970414  C2931093
  • MeSH: C536046
  • GARD: 8699
  • MedDRA: -

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