Cleidocranial dysplasia is also know as cleidocranial dysostosis or Mare and Santon disease or Mutational dysostosis.
Its an autosomal dominant inherited disorder with mendelian pattern of inheritance chiefly affecting the clavicle , skull bones and the teeth development.
ETIOLOGY :
Best know for its dental and clavicular abnormalities , this disorder of bone is caused by a defect in the CBFA 1 gene which is specially know as the RUNX2 gene of chromosome 6p21.
This gene normally guides osteoblastic differentiation , chondrocyte maturation and appropriate bone formation. This condition initially was taught to involve only membranous bones like the clavicle , skull , flat bon and similar but is now known to affect endochondral ossification and to represent a generalised disorder of skeletal structures.
CLINICAL FEATURES :
The clavicles typically are hypo plastic/discontinuous either unilateral/bilateral and in 10% of the cases both the clavicles are completely absent.
This clavicular abnormality results in unusual hyper mobility and the patient may bring their shoulders anterior to the chest with close proximity
The patients neck appears long and the shoulders are narrow with marked drooping
Ocular hypertelorism and broad based nose with depressed bridge is common
There is prolonged retention of Primary dentition and presence of supernumerary teeth, specially in the anterior region
Maxilla and paranasal air sinuses are underdeveloped resulting in Maxillar micrognathia and thus the maxilla is underdeveloped in relation to mandible
High narrow arched palate and cleft palate is common.
Cleidocranial dysplasia shows just how powerful our genes are in shaping the way our bones and teeth develop. People with this condition often have flexible shoulders and extra teeth, which makes it truly amazing to see how one gene can affect so many parts of the body’s skeleton in such unique ways.
This post gives a clear and detailed overview of cleidocranial dysplasia. I didn’t know it could affect both membranous and endochondral bones. The dental and clavicle features are quite unique, especially the shoulder mobility and supernumerary teeth. It’s surprising how one gene like RUNX2 can impact so many skeletal structures. The facial and oral signs also help in early diagnosis.
Very well explained! Cleidocranial dysplasia is such a fascinating condition because of its wide range of skeletal and dental manifestations. The role of the RUNX2 gene is especially crucial since it highlights how a single genetic mutation can impact both membranous and endochondral ossification. The clinical features like clavicular hypoplasia and multiple supernumerary teeth really make the diagnosis distinctive. Early recognition is so important for proper dental and orthopedic management.
Cleidocranial dysplasia is a rare genetic skeletal disorder characterized by underdeveloped or absent collarbones, delayed closure of skull sutures, and dental abnormalities. Early diagnosis and multidisciplinary care are vital for improving quality of life.