Is Treacher Collins syndrome detected before birth?

Diagnosing Treacher Collins Syndrome An exam may be all that is needed for diagnosis. Your doctor may take X-rays or CT (computed tomography) scans to confirm the diagnosis. Rarely, Treacher Collins syndrome is diagnosed before a baby is born if the abnormal facial features are seen during an ultrasound.

How does Treacher Collins syndrome look like?

People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called an eyelid coloboma. Some affected individuals have additional eye abnormalities that can lead to vision loss.

What are the signs and symptoms of TCS?

Signs and symptoms of TCS include some parts of the body developing in an abnormally or incompletely: These body areas include:

• eyes, including lazy eye, an inability to focus, and vision loss.
• lower eyelids, which may include notching and sparse or absent eyelashes.
• cheekbones and jaw.
• chin.

Can Treacher Collins be seen on ultrasound?

Conclusion: Treacher Collins syndrome can be prenatally detected by ultrasound and should be included in the wide range of genetic syndromes that can be diagnosed at perinatal autopsy. Affected fetuses tend to have a more severe phenotype than living patients.

Can someone with Treacher Collins live a happy life?

A patient diagnosed with Treacher Collins syndrome (TCS) may expect to have approximately the same lifetime as the general population with proper management and a healthy lifestyle. The life expectancy is normal as long as breathing problems during infancy are managed well.

Can Treacher Collins syndrome be detected in the womb?

How does a baby get Treacher Collins syndrome?

What Causes Treacher Collins Syndrome? Almost all children with TCS have a mutation (change) in one of three genes that control bone growth in and around the face. The mutation causes a change in a baby’s growth very early in pregnancy. For a few people with TCS, the gene causing the problem is not known.