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Osteogenesis imperfecta type 1

Orpha number ORPHA216796
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
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT
  • 385482004

Summary

Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.

The overall prevalence of OI is estimated at between 1/10,000 and 1/20,000 but the prevalence of type I is unknown.

OI type I is nondeforming with normal height or mild short stature, blue sclera, and no dentinogenesis imperfecta (DI; see this term).

OI type I is caused by mutations in the COL1A1 and COL1A2 genes (17q21.31-q22 and 7q22.1 respectively).

Transmission is autosomal dominant.

Expert reviewer(s)

  • Dr Véronique FORIN

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Detailed information

Emergency guidelines
  • EN (2008,pdf)
  • FR (2008,pdf)
  • ES (2008,pdf)
  • IT (2008,pdf)
  • PT (2008,pdf)
Anesthesia guidelines
  • EN (2012,pdf)
Guidance for genetic testing
  • EN (2013,pdf)
Clinical genetics review
  • EN (2013)
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