Cleidocranial Dysplasia Symptoms

Cleidocranial dysplasia is all about the deformity of bones and teeth. As it's name indicates deformity in collar bone and cranium. Cranium is the skull of head which provides protection and structure to the head. So its symptoms are all related to bones and teeth.

Children with cleidocranial dysplasia experience no pain and mild swelling in the clavicle bone. It appears at the age of 3 to 4 years. The most common features of cleidocranial dysplasia are; Clavicle bone may be partial missing and leaves only the medial part of bone. In some cases, the collar bone may be totally missing. And 10% of cases are reported with totally missed clavicle bone. When the size of clavicle bone is smaller than average, then it leads to hypermobility of shoulders. Shoulders may move freely. Even both soulders can be touched easily with opposite hands at a time. In about 80 % of cases, the defect is bilateral.

Partial collar bone presence may leads to symptoms of nerve damage. In this case, the collar bone is preferred to be removed. The hypoplasia of maxilla and other bones of face occurs and leads to prognathic mandible. A soft spot area can be observed by touching in the top of the head. The point of head where bones failed to join and leaves a soft part. Sometimes these bones fuse late.
The joints and bones of the body are under developed and are shorter in size. The size of the frame is small as compare to the normal children and is easy to move around.

Other than these symptoms, there may be under developed jaw. The permanent teeth are called supernumerary teeth. These teeth leads to crowding of adult teeth unless these are removed. Sometimes it becomes necessary to remove supernumerary teeth from jaw line to make space for the adult teeth. There are almost 13 supernumerary teeth are observed. These teeth may be displaced.

  • Wide forehead 
  • The fontanelle are large in size and there are open skull sutures. 
  • Hyper telorism. 
  • Permanent teeth are failed to errupt. 
  • It may also effect the structure of fingers. Fingers may be short and wide. The mid phalanges are shorter than normal. 
  • Wide symphysis. 
  • Abnormalities of vertebral column. 
  • Irritation of the brachial plexus occurs in some of the cases. 
  • Some conditions like scoliosis, syringomyelia and Spina bifida hasalso been described. 
  • There may be limitation in movement and abnormal gait of the body due to structural deformity. 
  • The ossification of bones is delayed and may leads to symphysis pubis. 
  • Other than these obvious symptoms, there are some rare symptoms like normal formation of the structure of ear. Child may experience hearing loss. Hemivertebrae which means half vertebral column. Rinbs and spondolysis may also occur. Hypoplasia may occur of iliac bones. The scapula may be high in some cases and it may also be small. There may be no or short fibular bones. Likewise, there may be no or short radial bones. 
  • Thus, all of the above mentioned symptoms are related to the structure of body. 


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