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Osteogenesis imperfecta type 5

Disease definition

Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term).

ORPHA:216828

  • Synonym(s):
    • OI type 5
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q78.0
  • OMIM: 610967
  • UMLS: C1970414  C2931093
  • MeSH: C536046
  • GARD: 8699
  • MedDRA: -

Summary

Epidemiology

To date 47 cases have been reported.

Etiology

The causal gene for OI type V is not known

Differential diagnosis

A clinically similar but histologically different type of OI type V (sometimes described as OI type VI) has been described and is thought to be autosomal recessive but the causal gene is not known.

Genetic counseling

Transmission is thought to be autosomal dominant.

Expert reviewer(s):  Dr Véronique FORIN - Last update: March 2010

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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.