Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Osteogenesis imperfecta type 1

Orpha number ORPHA216796
Synonym(s) Adair-Dighton syndrome
OI type 1
Van der Hoeve syndrome
Prevalence Unknown
Inheritance
  • Autosomal dominant
Age of onset Childhood
ICD-10
  • Q78.0
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. OI type I is nondeforming with normal height or mild short stature, blue sclera, and no dentinogenesis imperfecta (DI; see this term). 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 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
Last update: March 2010

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Detailed information
Emergency guidelines
  • EN (2008,pdf)
  • FR (2008,pdf)
  • ES (2008,pdf)
  • IT (2008,pdf)
  • PT (2008,pdf)
Guidance for genetic testing
  • EN (2013,pdf)
Clinical genetics review
  • EN (2013)
Get Acrobat Reader
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.