Cleidocranial Dysplasia or Dysostosis
The most common features of cleidocranial dysplasia/ dysostosis are among others:
Mutation in the gene RUNX2, on the short arm of chromosome 6, is known to cause CCD. Mutations are detected in only about 65% of all individuals with a clinical diagnosis of CCD.
Cleidocranial dysplasia is an autosomal dominant disorder. Its prevalence is estimated 1:1,000,000.