Orphanet: Osteogenesis imperfecta type 2

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Osteogenesis imperfecta type 2

Disease definition

A lethal type of osteogenesis imperfecta (OI) characterized by increased bone fragility, low bone mass and susceptibility to bone fractures and presenting with multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density skull on X-ray, and dark sclera.


Classification level: Subtype of disorder
  • Synonym(s):
    • Lethal osteogenesis imperfecta
    • OI type 2
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q78.0
  • OMIM: 166210  259440  610682  610915
  • UMLS: C0268358
  • MeSH: -
  • GARD: 10142
  • MedDRA: -

Detailed information

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FSMR : produced/endorsed by FSMR(s)
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