Different features of the dysostosis are significant. Radiological imaging helps confirm the diagnosis. During gestation (pregnancy), clavicular size can be calculated using available nomograms. Wormian bones can sometimes be observed in the skull. Diagnosis of CCD spectrum disorder is established in an individual with typical clinical and radiographic findings and/or by the identification of a heterozygous pathogenic variant in RUNX2 (CBFA1).
Cleidocranial dysostosis
Osteogenesis imperfecta
Acrofrontofacionasal dysostosis
Pycnodysostosis
Nager acrofacial dysostosis
Hajdu–Cheney syndrome
Ghosal hematodiaphyseal dysplasia
Mandibuloacral dysplasia