Cleidocranial dysostosis
| Cleidocranial dysostosis | |
|---|---|
| Synonyms | cleidocranial dysplasia, Marie-Sainton syndrome, mutational dysostosis |
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| Facial and forehead changes along with increased mobility of the shoulder girdles | |
| Classification and external resources | |
| Specialty | medical genetics |
| ICD-10 | Q74.0 |
| ICD-9-CM | 755.59 |
| OMIM | 119600 |
| DiseasesDB | 30594 |
| MedlinePlus | 001589 |
| MeSH | D002973 |
| GeneReviews | |
Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a congenital disorder, that mostly affects the development of bones and teeth. The collarbones are typically either poorly developed or absent, which often allows the shoulders to be brought close together. The front of the skull often does not close until later and those affected are often short. Other symptoms may include a prominent forehead, wide set eyes, abnormal teeth, and a flat nose. Symptoms can vary between people; however, intelligence is typically normal.
The condition is either inherited from a person's parents or occurs as a new mutation. It is inherited in an autosomal dominant manner. It is due to a defect in the RUNX2 gene which is involved in bone formation. Other conditions that can produce similar symptoms include mandibuloacral dysplasia, pyknodysostosis, osteogenesis imperfecta, and Hajdu-Cheney syndrome.
Treatment includes supportive measures such as a device to protect the skull and dental care. It affects about one per million people. Males and females are equally commonly affected. Modern descriptions of the condition date to at least 1896. The term is from cleido meaning collarbone, cranial meaning head, and dysostosis meaning formation of abnormal bone.
Cleidocranial dysostosis is a general skeletal condition so named from the collarbone (cleido-) and cranium deformities which people with it often have.
People with the condition usually present with a painless swelling in the area of the clavicles at 2–3 years of age. Common features are:
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