Osteogenesis Imperfecta

Reports from the MHC data base

Report from the Questionnaire (PDF)
Report from the Observation Chart (PDF)

Codes:

ICD-10: Q78.0
ORPHA: 666

Estimated occurrence

5:100 000 live births

Etiology

The protein ”collagen”, that acts to reinforce the bone tissue, is defective. OI is caused by a mutation in the collagen gene on chromosome 7 or 17. The mutations differ, which result in varying degrees of fragility of the bones.

General symptoms

Type I – IV, from minor to severe symptoms. Moderate to severe bone fragility may cause multiple fractures, back pain and scoliosis. Other symptoms that may occur include discoloration of the sclera, hearing impairment, loose joints, instability of the cervical spine, cardiovascular problems, hyperthermia – “sweating”, bleeding diathesis, varying degrees of shortness of stature, etc.

Orofacial/odontological symptoms

The most common tooth development disorder is Dentinogenesis Imperfecta (DI). DI is characterized by:

  • Tooth discoloration (light blue to dark brown with a transparent glaze).
  • Dentin is softer than normal.
  • Enamel ”splinters” from the soft dentin.
  • The soft dentin causes the teeth to wear down rapidly, especially the primary teeth.

Aplasia of one or more permanent teeth is common (some permanent teeth are missing). X-rays sometimes reveal elongated pulp chambers. The upper jaw is usually small causing malocclusion with prenormal occlusion (underbite).

Orofacial/odontological treatment

  • Early collaboration with specialists in child dentistry and orthodontics.
  • Steel crowns on six-year-molars, in combination with long-term temporary dental filling therapy, reduce the risk for extensive tooth wear on the crossbite side.
  • Plan early corrective surgical and prosthetic treatment to improve functional and esthetic occlusion.
  • Increased risk associated with anesthesia due to instability of the cervical spine.

Sources

  • The rare disease database of the Swedish National Board of Health and Welfare.
  • The MHC database - The Mun-H-Center database on oral health and orofacial function in rare diseases.
  • The Documentation from the Ågrenska national competence centre for rare diseases.
Updated: 2017-09-13 08:18