Cleidocranial dysostosis

Cleidocranial dysostosis (CCD), dem sanso call cleidocranial dysplasia, be a birth defect wey mostly dey affect de bones den teeth. De collarbones typically be either poorly developed anaa absent, wich dey allow de shoulders to be brought close togeda. De front of de skull often no dey close til later, wey those affected often be shorter dan average. Oda symptoms fi include a prominent forehead, wide set eyes, abnormal teeth, den a flat nose. Symptoms dey vary among people; however, cognitive function typically be unaffected.

De condition either be inherited anaa dey occur as a new mutation. E be inherited insyd an autosomal dominant manner. E be secof a defect insyd de RUNX2 gene wich be involved insyd bone formation. Dem dey suspect diagnosis base on symptoms den X-rays plus confirmation by genetic testing. Oda conditions wey fi produce similar symptoms dey include mandibuloacral dysplasia, pyknodysostosis, osteogenesis imperfecta, den Hajdu-Cheney syndrome.

Treatment dey include supportive measures such as a device to protect de skull den dental care. Dem fi perform surgery to fix certain bone abnormalities. Life expectancy generally be normal.

E dey affect about one per million people. Males den females equally commonly be affected. Modern descriptions of de condition date to at least 1896. De term be from cleido 'collarbone', cranial from Greek κρανίο 'skull', den dysostosis 'formation of abnormal bone'.

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Category:Congenital disorders of musculoskeletal system
Category:Transcription factor deficiencies
Category:Rare diseases
Category:Translated from MDWiki