Cleidocranial dysostosis

Cleidocranial dysostosis is an inherited skeletal disorder, usually caused by RUNX2 variants, that affects bone and tooth development. Common features include underdeveloped or absent collarbones, delayed skull development, and extra or delayed-erupting teeth.

RUNX2: RUNX2 is a gene encoding a transcription factor that regulates bone and tooth development. Pathogenic variants in this gene account for most cases of cleidocranial dysostosis.
Clinical genetics: Clinical genetics uses genetic information to diagnose, manage, and counsel people with inherited conditions. A genetics assessment can identify characteristic features and clarify inheritance.
Cleidocranial dysplasia: Cleidocranial dysplasia is the standard modern name for the inherited RUNX2-related disorder historically called cleidocranial dysostosis. The names commonly describe the same condition; dysplasia is now more widely used.
Supernumerary teeth: Supernumerary teeth are teeth that develop in addition to the normal primary or permanent dentition. They are common and can obstruct the eruption of permanent teeth.
Wormian bone: A Wormian bone is an extra small bone within a skull suture. These accessory skull bones can appear on imaging in affected individuals.
Osteoblast: An osteoblast is a bone-forming cell that produces and mineralizes the bone matrix. RUNX2 helps drive osteoblast differentiation, which is impaired in this disorder.
Genetic testing: Genetic testing analyzes DNA to identify variants associated with health conditions. Testing can confirm a suspected diagnosis by detecting a pathogenic RUNX2 variant.
Pycnodysostosis: Pycnodysostosis is a rare inherited bone disorder caused by CTSK variants, with dense bones and short stature. It can also involve delayed skull-suture closure, but has a different cause and skeletal pattern.
Delayed tooth eruption: Delayed tooth eruption is the later-than-expected emergence of a tooth into the mouth. It can complicate chewing, dental alignment, and treatment timing in this disorder.
Clavicle: The clavicle is the slender bone connecting the breastbone to the shoulder blade. Partial or complete absence of one or both clavicles is a hallmark finding.

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