What is Cleidocranial Dysplasia

Cleidocranial Dysplasia (CCD) is a rare genetic disorder that affects the development of bones and teeth. It is characterized by abnormal growth and development of the skull, collarbones, and teeth. Individuals with CCD typically have underdeveloped or absent collarbones, which can result in shoulder instability and limited range of motion. The condition also affects the growth of the skull, leading to a characteristic appearance with a prominent forehead, wide-set eyes, and a small upper jaw.

One of the most notable features of CCD is the delayed eruption or absence of permanent teeth. This can cause dental problems such as overcrowding, misalignment, and impaction. People with CCD may require orthodontic treatment and dental interventions to manage these issues.

CCD is caused by mutations in the RUNX2 gene, which plays a crucial role in bone and tooth development. The condition is usually inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the condition on to their children.

While there is no cure for CCD, treatment focuses on managing the symptoms and associated complications. This may involve orthopedic interventions to address skeletal abnormalities, dental procedures to address tooth problems, and ongoing medical and dental care to monitor and manage the condition.