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 sagital 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, the children have a 50% chance of having the disease and 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, their adult teeth may come in late, but then they often develop an extra set of adult teeth, which causes their 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       o Failure to lose the primary teeth at the expected time       o Slow eruption of secondary teeth       o Extra teeth (supernumerary teeth)       o Peg teeth       o 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 to close (the bony structures at the front of the pelvis)

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 in cases where one or both parents are affected.

Medical Encyclopedia

All ArmMed Media material is provided for information only and is neither advice nor a substitute for proper medical care. Consult a qualified healthcare professional who understands your particular history for individual concerns.