Cleidocranial Dysplasia Symptoms

Cleidocranial dysplasia is all about the deformity of bones and teeth, as its name indicates deformity in collar bone and cranium. Cranium is the skull of the 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 partially missing and leaves only the medial part of the 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 the clavicle bone is smaller than average, then it leads to hypermobility of shoulders. Shoulders may move freely. Even both shoulders can be touched easily with opposite hands at a time. In about 80 % of cases, the defect is bilateral.

Partial collar bone presence may lead to symptoms of nerve damage. In this case, the collar bone is preferred to be removed. The hypoplasia of maxilla and other bones of the face occurs and leads to the prognathic mandible. A soft spot area can be observed by touching at the top of the head. The point of the head where bones failed to join and leave a soft part. Sometimes these bones fuse late.

The joints and bones of the body are underdeveloped and are shorter in size. The size of the frame is small as compared to normal children, and it is easy to move around. Other than these symptoms, there may be an underdeveloped jaw. The permanent teeth are called supernumerary teeth. These teeth lead to crowding of adult teeth unless these are removed. Sometimes it becomes necessary to remove supernumerary teeth from the jawline to make space for the adult teeth. There are almost 13 supernumerary teeth observed. These teeth may be displaced.

1. Wide forehead
2. The fontanelle is large in size, and there are open skull sutures.
3. Hyper terrorism.
4. Permanent teeth are failed to erupt.
5. It may also affect the structure of the fingers. Fingers may be short and wide. The mid phalanges are shorter than normal.
6. Wide symphysis.
7. Abnormalities of the vertebral column.
8. Irritation of the brachial plexus occurs in some of the cases.
9. Some conditions like scoliosis, syringomyelia, and Spina bifida has also been described.
10. There may be limitations in movement and abnormal gait of the body due to structural deformity.
11. The ossification of bones is delayed and may lead to the symphysis pubis.
12. Other than these obvious symptoms, there are some rare symptoms like normal formation of the structure of the ear. Children may experience hearing loss—Hemivertebrae, which means half a vertebral column. Rings and spondylolysis may also occur. Hypoplasia may occur in 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.
13. Thus, all of the above-mentioned symptoms are related to the structure of the body.