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Cleidocranial dysostosis - Symptom

Symptoms:

Patients with cleidocranial dysostosis have a jaw and brow area that sticks out. The middle of their nose (nasal bridge) is wide.

The collar bones may be missing or abnormally developed. This pushes the shoulders together in front of the body.

Primary teeth do not fall out at the expected time. Adult teeth may develop later than normal, and an extra set of adult teeth grow in. This causes the normal teeth to become crooked.

The condition does not affect one's intelligence.

Other symptoms can include

  • Ability to touch shoulders together in front of body
  • Delayed closure of fontanelles ("soft spots")
  • Loose joints
  • Prominent forehead (frontal bossing)
  • Short forearms
  • Short fingers

Signs and tests:

There is often a family history of cleidocranial dysostosis. X-rays are usually taken and may show:

  • Undergrowth of the collarbone
  • Undergrowth of the shoulder blade
  • Failure of the area in the front of the pelvis bone to close
  • Reviewed last on: 1/29/2010
  • Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Horton WA, Hecht JT. Disorders involving transcription factors. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 696.

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