Cleidocranial dysostosis
| Subclass of | osteochondrodysplasia, genetic disease, autosomal dominant disease, disease  |
|---|---|
| Health specialty | medical genetics |
| Genetic association | RUNX2 |
| NCI Thesaurus ID | C75020 |
Cleidocranial dysostosis (CCD), dem sanso call cleidocranial dysplasia, be a birth defect wey mostly dey affect de bones den teeth.[1] De collarbones typically be either poorly developed anaa absent, wich dey allow de shoulders to be brought close togeda.[1] De front of de skull often no dey close til later, wey those affected often be shorter dan average.[1] Oda symptoms fi include a prominent forehead, wide set eyes, abnormal teeth, den a flat nose.[1] Symptoms dey vary among people; however, cognitive function typically be unaffected.[1]
De condition either be inherited anaa dey occur as a new mutation.[1] E be inherited insyd an autosomal dominant manner.[1] E be secof a defect insyd de RUNX2 gene wich be involved insyd bone formation.[1] Dem dey suspect diagnosis base on symptoms den X-rays plus confirmation by genetic testing.[2] Oda conditions wey fi produce similar symptoms dey include mandibuloacral dysplasia, pyknodysostosis, osteogenesis imperfecta, den Hajdu-Cheney syndrome.[3]
Treatment dey include supportive measures such as a device to protect de skull den dental care.[3] Dem fi perform surgery to fix certain bone abnormalities.[2] Life expectancy generally be normal.[4]
E dey affect about one per million people.[1] Males den females equally commonly be affected.[3] Modern descriptions of de condition date to at least 1896.[5] De term be from cleido 'collarbone', cranial from Greek κρανίο 'skull', den dysostosis 'formation of abnormal bone'.[6]
References
[edit | edit source]- 1 2 3 4 5 6 7 8 9 "cleidocranial dysplasia". GHR.nlm.nih.gov. January 2008. Archived from the original on 3 October 2016. Retrieved 2 October 2016.
- 1 2 "Cleidocranial dysplasia". rarediseases.info.nih.gov (in English). Genetic and Rare Diseases Information Center. 2016. Archived from the original on 28 January 2017. Retrieved 29 October 2017.
- 1 2 3 "Cleidocranial Dysplasia". rarediseases.org. National Organization for Rare Disorders, Inc. 2004. Archived from the original on 3 October 2016. Retrieved 2 October 2016.
- ↑ Young, Ian D. (2002). Genetics for Orthopedic Surgeons: The Molecular Genetic Basis of Orthopedic Disorders (in English). Remedica. p. 92. ISBN 9781901346428. Archived from the original on 2016-11-03.
- ↑ Epstein, Charles J.; Erickson, Robert P.; Wynshaw-Boris, Anthony Joseph (2004). Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis (in English). 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.
External links
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