Clinical Guidance

Some genotype-phenotype correlations have been established for the dental manifestations seen in CCD spectrum disorder. No clear correlation has been established between genotype and clavicular involvement .

Source: GeneReviews — "Cleidocranial Dysplasia Spectrum Disorder"

Penetrance

Pathogenic variants in RUNX2 have high penetrance. To date, there are no reports of incomplete penetrance.

Source: GeneReviews — "Cleidocranial Dysplasia Spectrum Disorder"

Diagnostic Criteria

Cleidocranial dysplasia (CCD) spectrum disorder is a skeletal dysplasia that represents a continuum of clinical and radiographic findings ranging from classic CCD (triad of delayed closure of the cranial sutures, hypoplastic or aplastic clavicles, and dental abnormalities), to mild CCD, to isolated dental anomalies without other skeletal features. No formal clinical diagnostic criteria for CCD spectrum disorder have been established.

Suggestive Findings

CCD spectrum disorder should be suspected in probands with the following clinical and radiographic findings.

Clinical findings

Source: GeneReviews — "Cleidocranial Dysplasia Spectrum Disorder"

Differential Diagnosis

Other conditions share some characteristics with cleidocranial dysplasia (CCD) spectrum disorder. The fact that similar skeletal elements are affected suggests that some of these conditions may result from mutation of genes (most notably CBFB) that affect the action of RUNX2 on its downstream targets (CBFB forms a heterodimer with RUNX2 to activate transcription of downstream targets). Table 2. Genes of Interest in the Differential Diagnosis of Cleidocranial Dysplasia Spectrum Disorder

Management Guidelines

No clinical practice guidelines for cleidocranial dysplasia (CCD) spectrum disorder have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with CCD spectrum disorder, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with Cleidocranial Dysplasia Spectrum Disorder

Source: GeneReviews — "Cleidocranial Dysplasia Spectrum Disorder"

Clinical Guidance

To avoid head trauma, helmets and protective devices should be worn when participating in high-risk sports and activities.

Source: GeneReviews — "Cleidocranial Dysplasia Spectrum Disorder"

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Cleidocranial Dysplasia Spectrum Disorder"

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 5. Recommended Surveillance for Individuals with Cleidocranial Dysplasia Spectrum Disorder

Source: GeneReviews — "Cleidocranial Dysplasia Spectrum Disorder"