What Is Cleidocranial Dysplasia?

Cleidocranial dysostosis is another name of cleidocranial dysplasia. It is a birth defect that mainly affects the bones and teeth of the newborn. 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 look like closer to each other. It affects the development of the head too.

So the front of the cranium may not be properly developed until later, and sometimes the size of the cranium is shorter than average. Its appearance can be diagnosed easily because of the wide-set eyes, a wide forehead, a flat nose, and abnormal teeth appearance. These symptoms are all physical symptoms. Cleidocranial dysplasia does not affect the intelligence of the newborn. 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 the 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.

What Is Cleidocranial Dysplasia?

The appearance of cleidocranial dysplasia resembles 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 that have similar symptoms. These medical conditions include mandibulofacial dysplasia, Hajdu Cheney syndrome, pyknodysostosis, and osteogenesis imperfecta.

The diagnosis is an important part of every treatment. Without an exact diagnosis, no one can prescribe a good treatment plan for a patient. So there are different tests that 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 the presence of cleidocranial dysplasia.

It usually occurs 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 the birth of infants with cleidocranial dysplasia is normal. It is a rare condition and affects 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 affected in cleidocranial dysplasia, so dental care is an important part of treatment. The abnormal bone structure of the 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 a structure, but it does not affect their intelligence.
What Is Cleidocranial Dysplasia? What Is Cleidocranial Dysplasia? Reviewed by Simon Albert on April 23, 2020 Rating: 5
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