Cleidocraniales

Cleidocraniales is a term used for the congenital skeletal disorder more commonly called cleidocranial dysostosis or cleidocranial dysplasia. It is a rare condition characterized by defective development of bones derived from the skull and clavicles, with notable dental anomalies. The disorder can affect skull formation, shoulder girdles, and dentition, producing a distinctive clinical pattern.

Genetically, cleidocraniales is usually inherited in an autosomal dominant manner, most commonly due to mutations in the RUNX2 gene (also known as CBFA1) on chromosome 6p21. The condition shows high penetrance but variable expressivity, and many cases arise de novo without a family history.

Key clinical features include hypoplastic or absent clavicles, which may allow the shoulders to be moved close to the midline and enable unusual shoulder mobility. Cranial features often involve delayed closure of the fontanelles and open sutures, sometimes with a bossed or prominent forehead. Facial features may include midface hypoplasia. Dental abnormalities are prominent and include numerous supernumerary teeth, delayed eruption of permanent teeth, and impacted teeth, contributing to malocclusion and aesthetic concerns. Skeletal variability can include scoliosis and short stature.

Diagnosis is based on a combination of clinical presentation, radiographic findings, and genetic testing. Radiographs typically show hypoplastic or absent clavicles, open sutures, and Wormian bones in the skull; dental radiographs reveal supernumerary and impacted teeth. Genetic testing confirms RUNX2 mutations.

Management requires a multidisciplinary approach. Dental care often involves removal of supernumerary teeth, exposure and orthodontic guidance of unerupted teeth, and sometimes implants. Orthopedic care addresses clavicular development, scoliosis, and other skeletal issues. While there is no cure, most individuals have normal life expectancy with management focused on functional and cosmetic improvements.