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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Osteogenesis imperfecta type 6


Other Names for this Disease
  • OI type 6
  • OI type VI
  • OI6
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Symptoms


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What are the signs and symptoms of osteogenesis imperfecta type 6?

Osteogenesis imperfecta type VI is a moderate to severe form of osteogenesis imperfecta that affects the bones but is distinctive in the bone characteristics at a microscopic level (histology).  People with this condition have bones that are thin (osteopenia) and break easily beginning  after 6 months of age.  A defect in how the bone uses minerals to build and strengthen bone (mineralization) causes a distinct "fish-scale" pattern.  Unlike other types of osteogenesis imperfecta, the whites of the eyes (sclerae) and teeth do not appear to be affected.[1][2]
Last updated: 4/5/2012

References
  1. Homan E, et al. Mutations in SERPINF1 Cause Osteogenesis. Journal of Bone and Mineral Research. November 21, 2011; 26:2798-2803. http://onlinelibrary.wiley.com/doi/10.1002/jbmr.487/abstract. Accessed 3/27/2012.
  2. Glorieux F, et al. Osteogenesis Imperfecta Type VI: A Form of Brittle Bone Disease with a Mineralization Defect. Journal of Bone and Mineral Research. January 2002; http://onlinelibrary.wiley.com/doi/10.1359/jbmr.2002.17.1.30/full. Accessed 3/30/2012.