What is the prevalence of Cleidocranial Dysplasia?

Cleidocranial Dysplasia (CCD) is a rare genetic disorder that affects the development of bones and teeth. It is estimated to occur in approximately 1 in every 1 million individuals worldwide, making it a highly uncommon condition.

CCD is caused by mutations in the RUNX2 gene, which plays a crucial role in bone and tooth development. These mutations can be inherited from an affected parent or occur spontaneously.

The disorder is characterized by various skeletal abnormalities, including delayed closure or absence of the collarbones, abnormal skull shape, and dental abnormalities such as delayed eruption of permanent teeth and extra teeth. Additionally, individuals with CCD may experience other symptoms like short stature and hearing loss.

Diagnosis of CCD is typically made through clinical evaluation, genetic testing, and imaging studies. Treatment options focus on managing the specific symptoms and may involve orthodontic interventions, dental care, and surgical procedures to correct skeletal abnormalities.

Given its rarity, individuals with CCD often benefit from support groups and specialized medical care to address their unique needs and challenges.