Osteogenesis imperfecta

Codes

IDC-10: Q78.0

ORPHA: 666

Report from the Questionnaire Report from the Observation Chart

General information

Estimated occurrence
5:100,000 live births.
Cause
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 &ndash "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 underbite.

Advice on follow-up and 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

Rare diseases
Updated: 0001-01-01 00:00