Diagnosis 

1. Diagnosis of Cleidocranial Dysplasia is made by clinical correlation. 
2. X-rays show collar-bone or clavicle to be absent or partially developed.
3. Genetic studies to determine the mutations can also be done but is not routinely recommended.

The gene for the condition has been found on chromosome 6 (specifically, in band p21) and been identified. 

It is the gene for the transcription factor CBFA1 (core-binding factor alpha subunit 1) and mutations of CBFA1 cause cleidocranial dysplasia.

Treatment

There is no specific treatment for Cleidocranial Dysplasia. Only the dental condition can be somewhat modified by timely intervention. As the dental problems is most significant appropriate measures is important. Some of the suggested options include the following:

1. The primary or the milk teeth should always be carefully assessed for presence of decay and if found these must be restored. Corrective surgery of the teeth and repositioning the bones is also recommended.
2. Application of dentures over the unerupted teeth
3. Extraction of teeth as they erupt. 

Some dentists do not recommend the removal of primary or supernumerary teeth as it does not necessarily promote eruption of unerupted permanent teeth. Also the permanent teeth may be difficult to extract due to presence of malformed roots.

Cosmetic surgeon or plastic surgeon or orthopedic surgeon also be consulted.