| Cleidocranial dysostosis | |
|---|---|
| Other names | Cleidocranial dysplasia,[1] Marie-Sainton syndrome,[1] mutational dysostosis[2] |
 | |
| Adult male patient described by Marie and Sainton, 1898 | |
| Specialty | Medical genetics |
| Symptoms | Missing collarbone, prominent forehead, flat nose, shorter[1] |
| Usual onset | Present at birth[3] |
| Causes | Genetic (RUNX2 gene)[1] |
| Diagnostic method | Based on symptoms and X-rays, confirmed by genetic testing[4] |
| Differential diagnosis | Mandibuloacral dysplasia, pyknodysostosis, osteogenesis imperfecta, Hajdu-Cheney syndrome[5] |
| Treatment | Supportive care[5] |
| Prognosis | Normal life expectancy[3] |
| Frequency | One per million people[1] |
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 among people; however, intelligence is typically unaffected.[1]
The condition is either inherited 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]
Treatment includes supportive measures such as a device to protect the skull and dental care.[5] Surgery may be performed to fix certain bone abnormalities.[4] Life expectancy is generally normal.[3]
It affects about one per million people.[1] Males and females are equally commonly affected.[5] Modern descriptions of the condition date to at least 1896.[6] The term is from cleido 'collarbone', cranial from Greek κρανίο 'skull', and dysostosis 'formation of abnormal bone'.[7]
- ^ a b c d e f g h i j k l m n "cleidocranial dysplasia". GHR.nlm.nih.gov. January 2008. Archived from the original on 3 October 2016. Retrieved 2 October 2016.
- ^ Rare Genetic Disorders That Affect the Skeleton. AuthorHouse. 2013. p. 43. ISBN 9781491815045. Archived from the original on 2017-11-05.
- ^ a b c Young, Ian D. (2002). Genetics for Orthopedic Surgeons: The Molecular Genetic Basis of Orthopedic Disorders. Remedica. p. 92. ISBN 9781901346428. Archived from the original on 2016-11-03.
- ^ a b c "Cleidocranial dysplasia". rarediseases.info.nih.gov. Genetic and Rare Diseases Information Center. 2016. Archived from the original on 28 January 2017. Retrieved 29 October 2017.
- ^ a b c d e "Cleidocranial Dysplasia". rarediseases.org. National Organization for Rare Disorders, Inc. 2004. Archived from the original on 3 October 2016. Retrieved 2 October 2016.
- ^ Epstein, Charles J.; Erickson, Robert P.; Wynshaw-Boris, Anthony Joseph (2004). Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis. Oxford University Press. p. 333. ISBN 9780195145021. Archived from the original on 2016-10-03.
- ^ "Cleidocranial Dysostosis". UCSF Benioff Children's Hospital. Archived from the original on 29 October 2016. Retrieved 2 October 2016.