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Cleidocranial dysostosis

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Skeletal Dysplasia Q&A

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Skeletal Dysplasia : Causes, Diagnosis, Symptoms, Treatment, Prognosis

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[Wikipedia] Kniest dysplasia

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CASE 139 skeletal dysplasia

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Skeletal Dysplasias

Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly affects the bones and teeth. The collarbones are typically either poorly developed or absent, which allows the shoulders to be brought close together. The front of the skull often does not close until later, and those affected are often shorter than average. Other symptoms may include a prominent forehead, wide set eyes, abnormal teeth, and a flat nose. Symptoms vary among people; however, intelligence is typically unaffected.