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    Cleidocranial dysostosis

    Cleidocranial dysostosis is a disorder involving the abnormal development of bones in the skull and collar (clavicle) area. The condition is passed down through families (inherited).

    Causes

    Cleidocranial dysostosis is caused by an abnormal gene. It is passed down through families as an autosomal dominant trait. That means you only need to get the abnormal gene from one parent in order for you to inherit the disease.

    Cleidocranial dysostosis is a congenital condition, which means it is present from before birth. The condition affects girls and boys equally.

    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

    Exams 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

    Treatment

    There is no specific treatment for the bone problems. An oral surgeon should monitor teeth regularly. An otologist should check for hearing problems.

    Outlook (Prognosis)

    The bone symptoms usually cause few problems. Appropriate dental care is important.

    Possible Complications

    Complications include dental problems and shoulder dislocations.

    When to Contact a Medical Professional

    Call your health care provider if you have a family history of cleidocranial dysostosis and are planning to have a child. Also call if you have a child with similar symptoms.

    Prevention

    Genetic counseling is appropriate if a person with a family or personal history of cleidocranial dysostosis is planning to have children.

    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.

    Horton WA, Hecht JT. Disorders involving transcription factors.In: Kliegman RM,Behrman RE, Jenson HB, Stanton BF, eds.Nelson Textbook of Pediatrics.19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 689.

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          Review Date: 2/2/2012

          Reviewed By: 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.

          The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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