Osteogenesis imperfecta type VI

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Disease Overview

Osteogenesis imperfecta type 6 is a form of osteogenesis imperfecta which results in weakened bones that breaks easily.  When viewed under a microscope, bone tissue has a distinct “fish-scale” pattern.  Individuals with osteogenesis imperfecta type 6 appear to be healthy at birth and do not have fractures until after 6 months of age. Osteogenesis imperfecta type 6 may be caused by mutations in the SERPINF1 gene and is inherited in an autosomal recessive pattern.[5120][5145][5146]


Synonyms

  • OI type 6
  • OI6
  • OI type VI
  • Osteogenesis imperfecta type
  • SERPINFI- related osteogenesis imperfecta

For more information, visit GARD.

National Organization for Rare Disorders