Cleidocranial Dysplasia (CCD)

Original Editor - Ravi Kumar

Top Contributors - Ravi Kumar  

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Introduction

Cleidocranial Dysplasia (CCD) is a rare genetic disorder that affects the development and growth of bones and teeth. People with CCD have abnormal or missing collarbones, which allows them to bring their shoulders close together in front of their chest. They also have delayed closure of the gaps between the bones of the skull, which results in a large and prominent forehead. CCD can cause various dental problems, such as delayed eruption of permanent teeth, extra teeth, or poorly aligned teeth. Some people with CCD may also have other skeletal abnormalities, such as short stature, curved spine, or malformed pelvis.

CCD is caused by mutations in the RUNX2 gene, which is involved in the formation of bone and cartilage cells. The condition is inherited in an autosomal dominant manner, which means that one copy of the mutated gene is enough to cause the disorder. However, some cases of CCD occur randomly due to new mutations in the gene. The severity and features of CCD can vary widely among affected individuals, even within the same family.

CCD is diagnosed based on the physical examination and X-ray findings. Genetic testing can confirm the diagnosis by detecting a mutation in the RUNX2 gene. There is no cure for CCD, but treatments can help manage the symptoms and complications. These may include surgery to correct bone deformities, dental care to improve oral health and appearance, and devices to protect the skull and prevent injuries. People with CCD have a normal life expectancy and intelligence.

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