genetic

Cleidocranial dysostosis

Cleidocranial dysostosis (CCD), also called cleidocranial , 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, function is typically unaffected.

Underlined words are explained — tap any of them.

Symptoms — what it feels like

·Missing collarbone, prominent forehead, flat nose, shorter

Causes — why it happens

· (RUNX2 gene)

How it's found

·Based on symptoms and X-rays, confirmed by testing

Treatment

·Supportive care

Outlook

·Normal life expectancy

More in Bones

Osteoporosis Fractures Rickets / osteomalacia Bone cancer Paget's disease of bone Osteomyelitis Scoliosis Osteopenia Avascular necrosis Spinal stenosis Kyphosis Bone (osteo)sarcoma

See all of Bones →

Plain-language summary adapted from Wikipedia. Not medical advice.