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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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

The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of dental color 90%
Abnormality of dentin 90%
Abnormality of the metaphyses 90%
Abnormality of the ribs 90%
Abnormality of the tibia 90%
Blue sclerae 90%
Carious teeth 90%
Convex nasal ridge 90%
Decreased skull ossification 90%
Gait disturbance 90%
Intrauterine growth retardation 90%
Macrocephaly 90%
Micrognathia 90%
Pectus carinatum 90%
Prominent occiput 90%
Abnormal cortical bone morphology 50%
Abnormal form of the vertebral bodies 50%
Abnormality of the femur 50%
Abnormality of the hip bone 50%
Genu valgum 50%
Glaucoma 50%
Hyperhidrosis 50%
Joint hypermobility 50%
Malformation of the heart and great vessels 50%
Narrow chest 50%
Opacification of the corneal stroma 50%
Reduced bone mineral density 50%
Scoliosis 50%
Slender long bone 50%
Triangular face 50%
Visual impairment 50%
Abnormality of the endocardium 7.5%
Hearing impairment 7.5%
Kyphosis 7.5%
Micromelia 7.5%
Pectus excavatum 7.5%
Recurrent fractures 7.5%
Short stature 7.5%
Subcutaneous hemorrhage 7.5%
Thrombocytopenia 7.5%
Umbilical hernia 7.5%
Visceral angiomatosis 7.5%
Wormian bones 7.5%
Coxa vara 5/8
Abnormality of the skin -
Autosomal dominant inheritance -
Autosomal recessive inheritance -
Biconcave vertebral bodies -
Blue sclerae -
Dentinogenesis imperfecta -
Elevated alkaline phosphatase -
Increased susceptibility to fractures -
Joint laxity -
Osteopenia -
Protrusio acetabuli -
Scoliosis -
Short stature -
Vertebral compression fractures -
Vertebral wedging -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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.


Other Names for this Disease
  • OI type 6
  • OI type VI
  • OI6
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.