What Is Treacher Collins Syndrome?
7. Diagnosis
In most instances, the first time anybody will be aware that there is a problem is when the child is born. The baby’s facial features alone will often be enough to indicate exactly what the problem is, although it is not yet confirmed at this point. In order to get more information, an x-ray is often used.
This will give more details about the baby’s facial structure and this can help identify specific characteristics that are typical of Treacher Collins syndrome. A genetic test can be used to help confirm the diagnosis, and other family members can be tested to see if they have the mutation.
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