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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.

ORPHA:216796

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: -

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.