Cleidocranial Dysplasia

Clinical case

A 15-year-old patient attends because many primary teeth remain and few permanent teeth have erupted. They can bring their shoulders unusually close together. A panoramic radiograph shows multiple unerupted permanent teeth and numerous supernumerary teeth.

Pathophysiology

Cleidocranial dysplasia is usually caused by pathogenic variants affecting skeletal and dental development. Disturbed bone and tooth development leads to:

• Delayed exfoliation of primary teeth

• Failure or delay of permanent tooth eruption

• Multiple unerupted permanent teeth

• Multiple supernumerary teeth

• Abnormal craniofacial and clavicular development

Supernumerary teeth may physically obstruct the eruption of permanent teeth.

Epidemiology and Risk Factors

Clinical Features

Cleidocranial dysplasia is a rare inherited skeletal dysplasia associated with abnormalities of the clavicles, skull and teeth. Dental features include multiple supernumerary teeth, retained primary teeth, delayed eruption and impacted permanent teeth

Investigations

Primary investigations:

• Full medical and dental history

• Family history

• Clinical examination

• Orthodontic assessment

• Radiographs: OPG to show unerupted or supernumerary teeth

Gold standard investigation:

Diagnosis is clinical and radiographic, supported by genetic testing when required.

Investigations to consider:

• Cone beam CT for surgical planning of multiple impacted teeth

• Skull and clavicle radiographs if diagnosis is not established

• Clinical genetics referral

• Restorative dentistry referral

Differential diagnosis