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Cleidocranial Dysplasia

Cleidocranial Dysplasia Causes

Cleidocranial dysplasia is caused by mutations in a gene called RUNX2. This gene provides the instructions for producing protein that's responsible for cartilage and bone development; when there's a mutation, the quantity of useful RUNX2 protein is decreased causing symptoms of the disorder.

Cleidocranial Dysplasia Definition

Cleidocranial dysplasia is an inherited condition that mainly affects bone development. It is distinguished by an absence or incompletely developed collar bones, as well as facial and cranial abnormalities.

Cleidocranial Dysplasia Diagnosis

The disorder is diagnosed based on radiographic and clinical findings, which includes imaging of thorax, cranium, hands, and pelvis.

Cleidocranial Dysplasia Symptoms and Signs

People with cleidocranial dysplasia generally show sloping and narrowed shoulders due to the absent or underdeveloped collar bones. In some cases, shoulders meet at the center of the body. Other symptoms include late closing of spaces in between skull bones, late closing of skull sutures, square skull, late teeth eruption, low nasal bridge, and abnormality of permanent teeth.

Cleidocranial Dysplasia Treatment

Treatment comprises dental procedures, orthodontic and surgical measures for addressing deciduous dentition. Middle ear and sinus infections require aggressive management; tympanostomy tubes may be required to for recurring middle-ear infections. If there is below normal bone density, vitamin D and calcium supplementation is done.

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