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Osteogenesis imperfecta type 2

Disease definition

Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.

ORPHA:216804

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

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