Cleidocranial Dysplasia (CCD)

What is Cleidocranial Dysplasia (CCD)?

Cleidocranial Dysplasia is a rare disease that usually presents at birth, making it a congenital condition.

The main features and symptoms of the syndrome affect the bones and teeth of affected individuals.

It occurs in just 1 in every 1 million live births, making it very rare.

What gene changes cause Cleidocranial Dysplasia (CCD)?

Mutations in the RUNX2 gene are responsible for causing the syndrome. It affects males and females equally. It is inherited in an autosomal dominant pattern.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of Cleidocranial Dysplasia (CCD)?

The main features of the syndrome affect the bones of the skull, face, spine, collarbones and the legs. Most individuals with the syndrome have absent or underdeveloped collarbones which leads to sloping shoulders.

Unique facial features of the syndrome include a wide and flat forehead, a low and wide nasal bridge, wide-set eyes and small lower jaw. A high arched hard or cleft palate may also present with the syndrome.

Other physical features of the syndrome include a short stature, narrow chest and extra or missing ribs, knock knees, decreased bone density, and scoliosis.

Symptoms involving dental abnormalities and issues are common with the syndrome. These can include impacted adult teeth, extra teeth, crowded teeth and thin tooth enamel.

How does someone get tested for Cleidocranial Dysplasia (CCD)?

The initial testing for Cleidocranial Dysplasia syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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