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Osteogenesis imperfecta type 3

Disease definition

A severe type form osteogenesis imperfecta characterized by increased bone fragility and low bone mass clinically manifesting as susceptibility to bone fractures, severe short stature, a triangular face, moderate to severe scoliosis, blue or blue-grey sclera, and dentinogenesis imperfecta.


Classification level: Subtype of disorder
  • Synonym(s):
    • OI type 3
    • Progressive deforming osteogenesis imperfecta
    • Severe osteogenesis imperfecta
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q78.0
  • OMIM: 259420  259440  610682  610915  610968  613848  613982  614856  615220  616229
  • UMLS: C0268362
  • MeSH: C536044
  • GARD: 8695
  • MedDRA: -

Detailed information

Article for general public


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