Summary about Disease
Cleidocranial dysostosis (CCD), also known as cleidocranial dysplasia, is a rare genetic disorder primarily affecting the development of bones and teeth. It is characterized by abnormalities in the skull, collarbones (clavicles), and teeth. The severity of symptoms can vary widely among affected individuals, even within the same family.
Symptoms
Common symptoms of CCD include:
Absent or poorly developed clavicles (collarbones), which may allow unusual shoulder movement, such as touching the shoulders together in front of the chest.
Delayed closure of the fontanelles (soft spots) of the skull.
Abnormal skull shape.
Short stature.
Dental abnormalities, including supernumerary (extra) teeth, delayed loss of baby teeth, and delayed eruption of permanent teeth.
Narrow chest.
Skeletal abnormalities in the hands, feet, and spine.
Hearing loss (less common).
Causes
CCD is caused by mutations in the RUNX2 gene. This gene plays a critical role in bone and tooth development. The condition is usually inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is necessary to cause the disorder. However, in some cases, it can occur as a new (de novo) mutation, meaning it appears in a person with no family history of the condition.
Medicine Used
There is no specific medicine to cure CCD. Treatment focuses on managing the symptoms and complications. Medical interventions may include:
Orthodontics: To manage dental problems, such as correcting misaligned teeth and extracting extra teeth.
Surgery: To remove extra teeth or correct skeletal abnormalities.
Hearing aids: For individuals with hearing loss.
Physical therapy: To improve strength and mobility.
Calcium and Vitamin D supplementation: May be recommended to support bone health.
Growth hormone therapy: In some cases, to address short stature. Bisphosphonates: In some cases used to treat skeletal deformities
Is Communicable
No, cleidocranial dysostosis is not communicable. It is a genetic disorder and cannot be spread from person to person.
Precautions
Since CCD is a genetic condition, there are no precautions to prevent it from occurring. However, individuals with CCD can take precautions to manage symptoms and prevent complications, such as:
Regular dental checkups and good oral hygiene.
Hearing evaluations if hearing loss is suspected.
Orthopedic evaluations for skeletal abnormalities.
Genetic counseling for family planning.
How long does an outbreak last?
CCD is not an infectious disease and therefore does not have "outbreaks". It is a chronic genetic condition present from birth.
How is it diagnosed?
CCD is typically diagnosed based on a combination of:
Clinical examination: Evaluation of characteristic physical features, such as abnormal clavicles and skull shape.
Radiographic imaging: X-rays of the skull, chest, and other areas to visualize bone abnormalities.
Dental evaluation: Assessment of dental development and the presence of extra teeth.
Genetic testing: Confirmation of the diagnosis through identification of a mutation in the RUNX2 gene.
Timeline of Symptoms
Symptoms of CCD are present from birth, although some may become more apparent as the child grows:
Infancy: Delayed closure of fontanelles, abnormal skull shape.
Childhood: Dental abnormalities (delayed eruption of teeth, extra teeth), short stature, and potential shoulder mobility differences.
Adolescence/Adulthood: Continued dental issues, possible skeletal problems, and potential hearing loss.
Important Considerations
CCD is a highly variable condition, and the severity of symptoms can differ significantly between individuals.
Early diagnosis and management can help to improve the quality of life for affected individuals.
A multidisciplinary approach involving dentists, orthodontists, surgeons, geneticists, and other specialists is often necessary.
Genetic counseling is important for families with CCD to understand the inheritance pattern and recurrence risk.