Treacher-Collins Syndrome – Being Born Without Cheek Bones (As Seen on Grey’s Anatomy)

On Thursday’s episode of Grey’s Anatomy, a girl with no cheek bones needed a surgery so that she could start playing sports without the fear of getting her face harmed. The girl had a syndrome called Treacher-Collins syndrome, explained below.

Danger: Medium

What is it?

Treacher-Collins Syndrome (TCS for short), also called mandibulofacial dysostosis, is a rare genetic disease causing deformities in the facial bones of our skull, such as absent cheek bones.

Who gets it?

TCS is rare. It happens in 1 out of 40-70,000 births.

It is genetic, and in 40% of cases runs in the family, meaning that the child inherits the defective gene from one of the parents in 40% of cases. The other 60% don’t depend on the parent, and the defective gene appears for the first time in the child.

What causes it?

When a fetus develops, its organs have many phases along the way to becoming adult organs. An example for that are the pharyngeal arches, grooves, and pouches. These are all structures that exist only in the fetus, while it’s developing in the womb. They develop slowly during pregnancy into adult organs.

For example – there are 6 pharyngeal arches, each developing into different organs or organ parts in our body.

pharyngeal-arches

A developing fetus. Three of the pharyngeal arches are labeled below (mandibular, hyoid, third).

In TCS, there’s a problem with growth of organs that derive from the 1st and 2nd arches (and grooves, and pouches) which are responsible for growth of structures in our face.

How does it feel?

Most people with TCS have underdeveloped facial bones, especially cheek bones, and a small jaw and chin (this is called micrognathia).

Sometimes an opening in the roof of the mouth can occur, called a cleft palate.

In severe cases, it may impair the baby’s airways and be life threatening.

In terms of appearance, people with TCS have eyes that slant downward, sparse eyelashes, and a coloboma, which is a notch in the lower eyelids. There can be other eye abnormalities, causing loss of vision.

The ears can also be affected and be absent, small, or have an unusual shape. This can also lead to hearing problems.

Here’s an example – this video is from a girl with TCS -

How is it discovered?

The looks of a child with TCS help diagnose the disease. The set of features unique to the condition help the doctor come at the correct diagnosis. Also, genetic testing can be done to see if the child has the defective gene.

If the doctor is in doubt, an facial image using x-ray or a CT scan can be used to help with the diagnosis.

How is it treated?

Plastic surgery can be used to treat certain deformities in the face (on Grey’s Anatomy, a bone graft was used to give the girl cheek bones).

Other things are also done to aid other problems that come with the disease, such as hearing aids for hearing loss, or help with breathing if the disease involves the airways.

What happens after treatment?

Children with this syndrome usually grow to become normally functioning adults. It’s important to address any hearing problems, so that the child can perform normally in school.


The bottom line – How do I avoid it?

If there is a history of TCS in the family, genetic counseling may prevent the birth of a child with the condition.

You can learn more about the condition by reading the Reflections on Treacher-Collins Syndrome blog, written by Amie.

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