Cleidocranial

Cleidocranial dysostosis (CCD), also known as Cleidocranial dysplasia, is a rare genetic disorder that primarily affects the development of the bones and teeth. It is characterized by collarbone (clavicle) abnormalities, delayed closure of the spaces between the bones of the skull (fontanels), and dental abnormalities.

Etiology

CCD is caused by mutations in the RUNX2 gene, which is involved in bone and tooth development. The disorder is inherited in an autosomal dominant manner, meaning that an affected person has a 50% chance of passing the disorder to each of their children.

Symptoms

The most common symptoms of CCD include:

• Absence or underdevelopment of the clavicles, allowing excessive mobility of the shoulders
• Delayed or incomplete closure of the fontanels, resulting in a larger than normal head size (macrocephaly)
• Dental abnormalities, such as delayed loss of primary teeth, delayed eruption of secondary teeth, and misaligned teeth (malocclusion)

Diagnosis

Diagnosis of CCD is based on clinical examination and confirmed by genetic testing for mutations in the RUNX2 gene. Radiographic imaging may also be used to identify characteristic skeletal abnormalities.

Treatment

Treatment for CCD is symptomatic and may include orthodontic treatment for dental abnormalities, surgery to correct bone abnormalities, and physical therapy to improve mobility and strength. Genetic counseling may be beneficial for affected individuals and their families.

See also

• Genetic disorder
• Bone development
• Dental abnormalities

References

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