Cleidocranial Dysplasia (CCD)

What is Cleidocranial Dysplasia (CCD)?

This rare disease is genetic condition that mainly affects the development of the bones and teeth.

It is believed to occur in 1 in 1 million people, but the numbers of undiagnosed may be higher due to the fact that the syndrome may cause only very mild symptoms in some individuals.

What gene changes cause Cleidocranial Dysplasia (CCD)?

Mutations in the RUNX2 gene are responsible for causing the syndrome. Although around 30% of cases have an unknown cause and show no mutations in the RUNX2 gene. 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)?

Symptoms may vary greatly amongst individuals with Cleidocranial Dysplasia.

However most individuals are affected by abnormalities in the development of the bones: they may be more fragile, absent or develop differently. This may also lead to decreased bone density and an increased risk of developing osteoporosis.

Individuals may present with under-developed or absent collarbones, this in turn leads to a narrow and sloping of the shoulders.

There is also often delayed development of the cranium (skull) with the condition, and for many individuals the fontanelles (the soft spot at the top of the head) does not close as it would normally during early childhood and stays open well into adulthood.

Other physical features of the syndrome include a short stature, tapered fingers and broad thumbs. Knock knees, flat feet and scoliosis (curvature of the spine) may also be symptoms.

Unique facial features of the condition include brachycephaly (a wide, short skull), a prominent forehead, wide set eyes, a flat nose and a small upper jaw

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

The initial diagnosis of Cleidocranial Dysplasia can begin with facial genetic analysis screening, as offered by FDNA Telehealth, which can identify the key markers of the syndrome and outline the need for further testing. If further testing is recommended what will follow is a consultation with a genetic counselor and then a geneticist. These consultations will usually involve a comprehensive review of the patient’s medical history, a generational family history documenting health issues and genetic conditions, and a detailed physical examination. Based on this clinical consultation, the options and recommendations for genetic testing will be shared with the individual’s parents/guardians and consent will be sought for further testing. This process may take place over the course of several clinic visits. Genetic testing will involve a blood sample. Results from the testing will then be sent back to the geneticist who will explain the resulting report in detail with the parents/guardians of the individual being tested.

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