It is usually easy to diagnose Treacher Collins syndrome because individuals with this condition have specific facial characteristics, although some other conditions cause similar physical attributes. X-rays and other techniques can confirm the diagnosis.
Sometimes, diagnosis may include identifying a milder form of the disease in the child's parents. If the parents carry the mutated gene, they have a 50% chance of having another child with Treacher Collins syndrome. In pregnancy, ultrasonography may be able to pick up various abnormalities in the head and potentially diagnose the condition before the child is born.
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