Dysostosis cleidocranialis | Erfelijkheid.nl

Dysostosis cleidocranialis is a congenital and hereditary disorder of bones. In most people, the bone of the collarbones and skull is not well developed. They also usually have abnormalities in their teeth. The cause is a defect in a gene.

Most people with cleidocranial dysostosis have:

  • At birth large and wide fontanelles, which later (and sometimes not) close during life.
  • Narrow and sloping shoulders because the collarbones have not developed properly. Then people can put their shoulders forward so far that they touch each other at the front of the body.
  • Deviations in the teeth such as too many teeth, milk teeth that are not exchanged for the adult teeth and remain in place. Then a person may have difficulty chewing and speaking clearly.

Other characteristics that someone with this condition may have include:

  • a broad and flat forehead
  • an excellent forehead
  • eyes that are wide apart
  • the center of the face may be sunken
  • a pointed jaw
  • short fingers
  • short length
  • a curved back (scoliosis)
  • hip abnormalities
  • X-Legs
  • flat feet
  • bone loss (osteoporosis)

Someone with cleidocranial dysostosis may suffer from inflammation of the upper airways and ears. Those inflammations keep coming back. Ear infections can cause hearing loss.

The characteristics of cleidocranial dysostosis can vary from person to person. If the doctor recognizes in time that someone has cleidocranial dysostosis and treats the symptoms properly, the symptoms are usually mild.

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