cleidocranial dysplasia
Pronunciation: KLY-doh-KRAY-nee-al dis-PLAY-zhah
A rare genetic disorder affecting bone and tooth development, characterized by delayed closure of cranial sutures and absent or underdeveloped clavicles.
Full Definition
A hereditary skeletal dysplasia caused by mutations in the RUNX2 gene, presenting significant challenges in oral and maxillofacial surgery. Patients typically exhibit delayed or absent eruption of permanent teeth, supernumerary teeth, underdeveloped maxilla, and delayed closure of fontanelles. The characteristic ability to approximate the shoulders due to absent or hypoplastic clavicles is pathognomonic. Oral manifestations require coordinated treatment including surgical exposure of impacted teeth, orthodontic eruption, and often extensive prosthetic rehabilitation. The condition affects approximately 1 in 1 million individuals.
Usage
Usage note: Also called cleidocranial dysostosis; the term dysplasia is preferred in current literature.
In Context
- "The patient's cleidocranial dysplasia required staged surgical exposure of multiple impacted permanent teeth." — treatment planning conference