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Osteogenesis imperfecta type 1

Disease definition

A mild form of osteogenesis imperfecta (OI) characterized by increased bone fragility and low bone mass that clinically manifests with increased susceptibility to bone fractures (including vertebral crush fractures), normal height or short stature (typically between 0 and -2.0 SD scores), mild (Cobb angle <30 degrees) or no scoliosis, blue sclera, and in dentinogenesis imperfecta and mild long bone bowing bone deformities.


Classification level: Subtype of disorder
  • Synonym(s):
    • Adair-Dighton syndrome
    • Mild osteogenesis imperfecta
    • Non-deforming osteogenesis imperfecta
    • OI type 1
    • Van der Hoeve syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: Q78.0
  • OMIM: 166200  166230
  • UMLS: -
  • MeSH: -
  • GARD: 8694
  • MedDRA: -

Detailed information

Article for general public


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