What Is Cleidocranial Dysplasia?

Cleidocranial dysostosis is another name of cleidocranial dysplasia. It is a birth defect which mainly effects bones and teeth of the new born. As the name indicates, cleido means collar bone and cranial means head. Dysplasia is the abnormal development of collar bone and head. The collar bone may be abnormally developed or absent. Due to this abnormal development of collar bone, the shoulders looks like closer to each other. It effects the development of head too.

So the front of the cranium may not be properly developed until later and sometimes the size of cranium is shorter then average. Its appearance can be diagnosed easily because of the wide set eyes, wide forehead, a flat nose and abnormal teeth appearance. These symptoms are all physical symptoms. Cleidocranial dysplasia does not effect intelligence of the new born. Other than cleidocranial dysostosis, the synonyms of cleidocranial dysplasia are mutational dysostosis and Marie sainton syndrome.

Cleidocranial dysplasia may transfer from parents to their offsprings during pregnancy. Other than inheritance of this dysplasia, it may appear as a new mutation. It is inherited in an autosomal dominant manner. A specific Gene named RUNX2 is involved in this mutation. This Gene is an important Gene in bone formation.

The appearance of cleidocranial dysplasia resembles to various other medical conditions, so genetic testing makes it separate from other medical conditions. Even x-rays can not confirm its presence. There are many other medical conditions which have similar symptoms. These medical conditions include mandibuloacral dysplasia, hajdu Cheney syndrome, pyknodysostosis and osteogenesis imperfecta.

The diagnosis is an important part of every treatment. Without exact diagnosis, no one can prescribe a good treatment plan for patient. So there are different tests which are performed to confirm the presence of cleidocranial dysplasia. During pregnancy, the size of the clavicle bone is measured for the diagnosis of cleidocranial dysplasia. If the size is shorter than normal, then it is a sign of presence of cleidocranial dysplasia.

It usually occur as a result of family history with cleidocranial dysplasia. To avoid this dysplasia, people should avoid inter family marriages. As it is a birth defect, so supportive treatment is preferred. A device is used to fix skull deformity and protect cranium. It also protects teeth deformity.

It is not a fatal condition. The life expectancy after birth of infants with cleidocranial dysplasia is normal. It is a rare condition and effects about one in a million population. There is no gender discrimination in this dysplasia. It occurs evenly in both men and women.

Up till now approximately 1000 cases are reported with cleidocranial dysplasia. Teeth are mostly effected in cleidocranial dysplasia, so dental care is an important part of treatment. The abnormal bone structure of upper body leads to various problems in routine activities. Children with this dysplasia learn to walk and talk late than normal children. It is because of their bone structure. It's difficult for them to cope with such structure but it does not effect their intelligence.