Cleidocranial Dysplasia Causes

Cleidocranial dysplasia is all about bone deformity. The bones which are mainly involved in this dysplasia are clavicle bone and cranium. Cleidocranial dysplasia mainly effects the upper structure of the body. In occurs in new born children. There are two main causes behind it's occurrence. 1st one is, it may occur due to Gene mutation during development of fetus and the 2nd cause is, it may occur as a new mutation in the new born child.

So if the family has a history with cleidocranial dysplasia, then there are chances that the new born baby of the family may suffer from this deformity. It is a rare disease and the life expectancy is also normal. The appearance of the body is affected.

It is inherited to the infant during pregnancy as an autosomal dominant trait. But in some of the cases, the exact cause behind cleidocranial dysplasia is not known. There is a specific Gene named RUNX2 which is also known as CBFA1 is involved in this mutation. This Gene is located on the chromosome no. 6 specifically on the shorter arm. This gene is responsible for the transcriptiom process of osteoblast differentiation.

Due to mutation in this gene, the functions are delayed. As a result there is late ossification of the midline structure of body. It can specially be seen in membranous bone. All this occur during the development of the fetus in pregnancy. The pregnant lady comes to know about it during sonography of the fetus. If the measured shoulder length is smaller than usual, then there are chances of cleidocranial dysplasia.

There is another article, in which a Gene named CBFA1 is involved in mutation and considered a cause of cleidocranial dysplasia. This gene is responsible for core binding factor activity 1. The defect in this gene can be observed on the shorter arm of chormosome no. 6p21.

CBFA1 gene is specified for the differentiation of stem cells in to the osteoblasts. When any kind of defect occurs in this gene, it leads to endochondral and membranous bone formation.
According to the defect in this specific Gene, the symptoms appear in a wide range with variable expressions. Dominant genetic trait of disease appears as a result of single copy of the abnormal gene. There is not any gender preference. It can occur in both men and women. There are 50% chances of transfer of cleidocranial dysplasia in infants from parents.

Details about the sex chromosomes of body include X and Y chromosomes from male joins with 2 X chromosomes of female. Now every chromosome has a short Arm named as "p" and a long arm named as "q". There are further bands on each arm of the chromosome. The position of Gene can be defined according to the band of the shorter arm of chromosome.

Up till now almost 1000 of cases are reported. And among them 50% of cases were occurred as a result of inheritance of such dominant trait. Remaining 50% of cases were reported with as a new mutation of the gene mentioned above.