From the Research
Cleidocranial dysplasia is a rare genetic disorder affecting bone development, primarily characterized by absent or underdeveloped collarbones, dental abnormalities, and skull and facial differences. This condition is caused by mutations in the RUNX2 gene and follows an autosomal dominant inheritance pattern, meaning each child of an affected person has a 50% chance of inheriting the condition 1. The main characteristics of cleidocranial dysplasia include hypoplastic or aplastic clavicles, delayed closure of the fontanelles, retention of primary teeth, delayed eruption of permanent teeth, supernumerary teeth, and multiple impacted teeth 2, 3, 4, 5.
Key Features and Treatment
- Hypoplastic or aplastic clavicles
- Dental abnormalities such as retention of primary teeth, delayed eruption of permanent teeth, supernumerary teeth, and multiple impacted teeth
- Skull and facial differences
- Treatment typically includes dental interventions such as orthodontics, surgical exposure of impacted teeth, and possibly dental implants
- Orthopedic care may be necessary for skeletal issues, though the absence of collarbones rarely requires treatment
- Hearing evaluations are recommended due to increased risk of hearing loss
- Genetic counseling is important for affected individuals and families
Importance of Early Diagnosis and Multidisciplinary Approach
Early diagnosis of cleidocranial dysplasia is crucial for proper management and treatment, which can significantly improve the quality of life for affected individuals 1, 5. A multidisciplinary approach involving specialists such as dentists, orthodontists, orthopedists, audiologists, and geneticists is necessary for coordinated care and to address the various symptoms and complications associated with this condition. Despite physical differences, most people with cleidocranial dysplasia have normal intelligence and life expectancy, making early diagnosis and treatment essential for optimizing outcomes 1. The most recent and highest quality study 1 emphasizes the importance of combined orthodontic-surgical sequential treatment for achieving acceptable occlusion and midfacial appearance in patients with cleidocranial dysplasia.