Cleidocranial Dysplasia

Below you will find more information about Cleidocranial Dysplasia from Medigest. If you believe that you are suffering from any of the symptoms of Cleidocranial Dysplasia it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Cleidocranial Dysplasia and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Cleidocranial Dysplasia comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

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.

Diagnosis

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

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.

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.

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.

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