RUNX2 and cleidocranial dysplasia 1: For karyotype analysis, if RUNX2 testing is not diagnostic and strong suspicion persists in an individual with CCD features who also has multiple congenital anomalies and/or developmental delay, a karyotype analysis may be considered to evaluate complex chromosome rearrangements or translocations that involve RUNX2 locus but do not result in RUNX2 copy number changes [25, 26].