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Cleidocranial Dysostosis

Overview

The cleidocranial Dysostosis (CCD) is also called Cleidocranial dysplasia and it is a hereditary condition. Under this condition the abnormal clavicles, extra teeth, short stature, delayed fusion of the skulls and other skeletal changes are observed. Sometimes the ribs, pelvis, bones of hands and feet are also affected. Though, there is no significant physical or mental disability in the patient.


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Causes

The cleidocranial dysostosis is an autosomal dominant condition with variable level of expressivity and complete penetrance. In around 1/3rd of the patients new mutations are seen. Both the gender kids stand equal chance of developing this disease.


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Signs & Symptoms

The patient with cleidocranial dysostosis has the following symptoms namely:-

  • The patient may experience delay or failure of the fusion of the calvarial sutures. This calvarial sutures is the openings between the bones of the skulls in the infants.
  • In some of the cases the “soft spot” (anterior fontanelle) of skull may remain unfused throughout the life.
  • The patients with this disease will have broad forehead and widely spaced eyes.
  • The head size is mostly in the upper limit of the normal.
  • There may be hypoplasia or underdevelopment of the clavicles (collar bones).
  • In severe cases it is seen that both the clavicles are absent. Though, no physical disability is seen in the patient.
  • The commonest disability seen in patient is the dental disabilities which is the characteristic symptom of this disease.
  • There may be slow loosing of the baby teeth and also delay in eruption of the permanent teeth.
  • There may be large number of permanent teeth and their enamel may be quite abnormal and prone to decay easily.
  • Small rib cages are also seen with abnormal ribs.
  • There may be malformation of the vertebra of the spine too.
  • It is also seen that the pelvis is underdeveloped due to which there is increased space between the pubic bones.
  • The other unusual complications include scoliosis (curvature of the spine), cleft palate, small jaw and bone fragility.
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Prevention

There is no known prevention of this disease.

 


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Treatments
No Treatment Added.
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