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Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly affects the bones and teeth.[1] The collarbones are typically either poorly developed or absent, which allows the shoulders to be brought close together.[1] The front of the skull often does not close until later, and those affected are often shorter than average.[1] Other symptoms may include a prominent forehead, wide set eyes, abnormal teeth, and a flat nose.[1] Symptoms vary between people; however, intelligence is typically normal.[1]
The condition is either inherited from a person's parents or occurs as a new mutation.[1] It is inherited in an autosomal dominant manner.[1] It is due to a defect in the RUNX2 gene which is involved in bone formation.[1] Diagnosis is suspected based on symptoms and X-rays with confirmation by genetic testing.[4] Other conditions that can produce similar symptoms include mandibuloacral dysplasia, pyknodysostosis, osteogenesis imperfecta, and Hajdu-Cheney syndrome.[5]
