Treacher Collins Syndrome

Treacher Collins Syndrome Is an inherited disorder that causes defects in facial appearance. It is seen in about 1 out of 50,000 babies born. It can cause mild or severe physical deformities, but does not usually affect the level of intelligence. This condition, also known as Franceschetti syndrome, causes facial bones and tissues to develop improperly. There may not be complete cheek bones, the jaw may be small, and cleft palate is common.

The disease may run in families, but occasionally it happens with no family history of the syndrome. This article will help you understand what it is and how it can be managed.

What Causes Treacher Collins Syndrome?

Syndrome de Treacher Collins is a genetic disorder caused by a mutation in the TCOFI gene. This gene helps regulate the Treacle protein, which is thought to help the bones and facial tissues develop properly. Researchers are still unsure of the complete role of the protein, but they do know it is very important for facial development both in the womb and after birth. The mutation causes a decline in the amount of available Treacle protein, which may change the actual cells that form facial features.

Treacher Collins Syndrome Symptoms

The symptoms of Treacher Collins Syndrome are often noticeable on ultrasound during pregnancy. It most commonly causes deformed and underdeveloped features in the face and jawline. The lower eyelids are affected, the cheekbones, jaw, and the ears may be misplaced. Children and infants with the condition may have trouble breathing and hearing. The symptoms are as follows by affected area:

Jaws and Teeth

  • Cleft palate (malformed roof of mouth)
  • Irregular mouth opening
  • Tooth gaps
  • Small jaw
  • Upper jaw angles downward

Facial

  • Missing brow bone
  • Missing or small cheekbones
  • Downward sloping eyes
  • Lower eyelid drooping
  • Widened mouth area

Ears

  • Small ears
  • Missing ears
  • Lack of ear canal
  • Ears set too low near the neck area

General Symptoms

  • Trouble swallowing
  • Vision issues
  • Hearing loss
  • Trouble breathing
  • Speech issues
  • Hand deformities

A Few Kids with Treacher Collins Syndrome:

Meet Juliana Wetmore

(Photo Courtesy of: nydailynews.com)

Juliana Wetmore was literally “born without a face,” missing over 40 percent of the bones that would define a normal face. She has endured over 45 surgeries in her young 11 years of life. She needs a hearing aid, breathes through a tracheostomy, and is now starting to speak. She is of above average intelligence and tells her parents that she is happy with her looks at this point. She attends a regular elementary school. Here is Juliana now:

(Photo Courtesy of: Thom Wetmore)

Meet Jono Lancaster

(Photo Courtesy of: Spokeo.com)

Jono Lancaster was given up for adoption when he was only 36 hours old. He has no cheekbones which causes his lower eyelids to droop down. He has bone implant hearing aids to assist with his hearing. Jono went through a lot growing up, but overcame all the obstacles. He is now a very big advocate for kids with facial deformity traveling the world to be a positive influence in the name of Treacher Collins Syndrome.

Here are more photos of children with Treacher Collins Syndrome:

Treacher Collins Syndrome Treatments

Babies born with syndrome de Treacher Collins may have trouble breathing and eating at birth. Doctors usually work quickly to make sure these two things are functional before moving into major surgery. Since they most likely are not able to breast or bottle feed, a feeding tube will need to be placed. They may also need an immediate tracheostomy if the airways are compromised. This entails placing a tube directly into the neck/throat area.

Before discharge after they are born, parents are usually counseled on feeding, proper weight gain, and breathing issues to watch for. The hospital will also do a special hearing test before discharge. In the near future, babies may need to see both an audiologist for a hearing evaluation and an otolaryngologist to check the inner structures of the ears and throat.

After babies with Treacher Collins Syndrome stabilize, surgeries will be scheduled to repair issues like cleft palate, eyelids, and cheekbones. Bone grafts can be done to help build up cheekbones. Some of the surgeries are held off until the child is 5 years of age or older. Doctors will also perform surgery to straighten out any jaw and teeth issues.

Treacher Collins Syndrome Prognosis and Life Expectancy

Babies born with severe Treacher Collins syndrome that affects their breathing may die soon after birth. Some babies with severe defects may be rescued with an immediate tracheostomy (cut into the throat) so they can breathe. Doctors can also perform a surgery that moves the jaw into proper position shortly after birth so the baby can breathe on its own sooner. This improves life expectancy for newborns that are more severe.

For less severe cases, people with Treacher Collins Syndrome are usually able to live full normal lives. The main issue with the syndrome is social adjustments. Kids are often stared at or bullied by other children.

It is important to understand that people who suffer from Treacher Collins Syndrome have over a 50% chance of having a baby with the syndrome. This decision is entirely up to the person with the disorder and a genetic specialist can help.

The life expectancy for people with Treacher Collins Syndrome is the same as anyone else if all the complications are dealt with early on. This means repairing any airway issues, addressing feeding concerns, hearing and vision. They have normal intelligence and can lead productive lives. 

 
 
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