Cleidocranial dysostosis

A rare autosomal dominant disorder caused by mutations in the RUNX2 gene. It is characterized by developmental abnormalities in the bones and teeth, including the complete or partial absence of the clavicles, delayed closure of the fontanels, protruding mandible, hypertelorism, scoliosis, and short stature.

Disease Alternative Name

cleidocranial dysplasia
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