Cleidocranial dysostosis

Definition

Cleidocranial dysostosis is an inherited disorder of bone development, characterized by absent or incompletely formed collar bones, abnormal shape of the skull with depression of the sagittal suture, characteristic facial appearance, short stature, and dental abnormalities.

Causes, incidence, and risk factors

Cleidocranial dysostosis is inherited as an autosomal dominant characteristic, which means that if one parent is affected, each child has a 50% chance of having the disease. Any child who inherits the gene for the condition from the affected parent, regardless of the other parent's normal gene, will develop it.

The disorder is present from before birth (congenital) and equally common in males and females. People with cleidocranial dysostosis have a heavy protruding brow, a protruding jaw, and a wide nasal bridge. As these children mature, adult teeth may come in late, and an extra set of adult teeth develops, which causes the normal teeth to become misaligned.

The incomplete development or absence of the collar bones allows the shoulders to be brought together in front of the body. Other bone abnormalities exist. Intelligence is normal.

Symptoms

• Incomplete or absent collar bone
• Ability to touch shoulders together in front of body
• Loose joints
• Delayed closure of fontanelles
• Tooth abnormalities
  • Failure to lose the primary teeth at the expected time
  • Slow eruption of secondary teeth
  • Extra teeth (supernumerary teeth)
  • Peg teeth
  • Delayed formation or absence of teeth
• Low nasal bridge
• Occipital, parietal, and frontal bossing
• Short forearms
• Short fingers

Signs and tests

There is often a family history of cleidocranial dysostosis.

Skeletal x-rays show:

• Undergrowth of the clavicle (collarbone)
• Undergrowth of the scapula (shoulder blade)
• Failure of the pubic symphysis (the place in the front of the pelvis where the bones are united by cartilage) to close

Treatment

There is no specific treatment for the bony abnormalities. An oral surgeon should monitor teeth regularly, with particular attention to both decay and cosmetic appearance. An otologist should check for hearing defects.

Expectations (prognosis)

The bony abnormalities cause little problem. Appropriate dental care is vital.

Complications

The dental problems are the most significant complications.

Calling your health care provider

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

Prevention

Genetic counseling is appropriate for prospective parents with a family history of cleidocranial dysostosis, or if one or both parents are affected.

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