CLEIDOCRANIAL DYSPLASIA - Overview, Facts, Types, Diagnosis...


Cleidocranial dysplasia, also known as cleidocranial dysostosis, is a rare birth defect caused by genetic conditions that affect the teeth and bones. People with this condition have poorly developed bones, which may be formed differently or more fragile than normal.

The term cleidocranial comes from the two words: “cleido,” which means collarbone, and “cranial,” which means skull. The abnormalities of these two parts are the main features of cleidocranial dysplasia. Typically, persons with this condition have underdeveloped collarbones, which may also be absent in some cases. Due to these abnormalities, the shoulders become narrow and sloping and appear to be unusually close together. In some cases, the shoulders did meet each other in the middle of the body. When it comes to the skull, delay in the development of its closing is expected since the growth lines where the bones of the skull meet are affected. Also, the fontanelles or the soft spots on the infants’ heads remain open throughout the life of the person with cleidocranial dysplasia. Normally, these fontanelles close during early childhood. Dental abnormalities are also one of the main features of cleidocranial dysplasia. 

This condition occurs when the RUNX2 gene fails to work correctly. This gene has a role in forming the cells that create bones in the body, which are called osteoblasts. This gene also has a role in the maturation of the cells that makes up the cartilage called the chondrocytes. 

According to studies, this rare condition occurs in 1 per million individuals worldwide.


As mentioned, the main features of cleidocranial dysplasia are abnormalities in the skull, collarbone, and teeth. However, there are a variety of symptoms of this general skeletal condition. Here are the specific symptoms of cleidocranial dysplasia:

  • Delayed closure of skull bones
  • Bulging forehead
  • A low and wide nasal bridge
  • Wide-set eyes
  • Small midface
  • High-arched cleft palate
  • Ear problems such as infections or hearing loss
  • Baby teeth that do not come out
  • Impacted adult teeth
  • Extra teeth
  • Crowded teeth
  • Malocclusion or the condition wherein the teeth do not meet while biting
  • Short stature
  • Short fingers and other noticeable abnormalities in the hand
  • Narrow chest
  • Underdevelopment or absence of the collarbones
  • Decreased bone density
  • Extra or missing ribs
  • Pelvic bone deformities
  • Scoliosis
  • Knock knees


To accurately diagnose cleidocranial dysplasia, the patient with bone abnormalities will undergo imaging tests, including a series of X-rays of the whole skeleton and dental x-rays. A genetic test for the RUNX2 gene will also be conducted to help with the diagnosis. 


The treatment for cleidocranial dysplasia varies depending on its severity and how it affects the patient. It is most likely that the patient must undergo several orthopedic and dental procedures to improve their well-being. It involves several reconstructive surgeries, such as:

  • Facial reconstructive surgery to reshape the forehead and cheekbones
  • Spinal fusion procedures to support the spine
  • Lower leg surgery to correct inward-bent knees
  • Surgical repair of fractured bones
  • Removal of small collarbone pieces that causes arm pain or nerve problems
  • Oral surgery for extra or impacted teeth
  • Jaw surgery to correct bite

The patients will also be advised to take calcium and vitamin D supplements to help strengthen their bones.

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