Treacher Collins Syndrome Pictures, Photos, Juliana

What is Treacher Collins Syndrome?

Treacher Collins syndrome (TCS) is a genetically acquired condition in which the affected person manifests craniofacial abnormalities. A person with TCS has underdeveloped facial features especially in relation to the cheekbones and the jawbones. The term Treacher Collins was derived from the name of Dr. Edward Treacher Collins, the ophthalmologist who first described the condition’s essential traits. Another name for Treacher Collins syndrome is mandibulofacial dysostosis.

Causes of Treacher Collins Syndrome

Treacher Collins syndrome is inherited through an autosomal-dominant pattern, which means you can inherit the condition if one of your parents has the disease. Oftentimes one of the parents may not realize that they have that disease until they give birth to an affected child. This is possible for a parent with a mild form of TCS that goes undiagnosed.

But this condition can also develop even without any trace in the family’s history. Up to now, there has been no evidence which shows that this condition could have been caused by the mother’s activities during her pregnancy. The disorder is mainly caused by genetic mutation.

Mutations in the treacle gene, or TCOF1, result to Treacher Collins Syndrome. Majority of these mutations involve deletions and insertions. We need two copies of normal genes (taken from the mother and the father) for them to function properly. If one gene cannot function well due to mutation, this will translate to abnormality in the body.

Symptoms of Treacher Collins Syndrome

The severity of this condition may vary from one person to another. In some, the abnormal features are hardly noticeable, while in others signs and symptoms are very apparent. The indicators of this syndrome include:

• Underdeveloped cheekbones

• Small lower jaw

• Lowered eyelids

• Eyes are slanting downward

• Malformed ears which may result to hearing difficulties. Some may even have complete absence of the outer ear.

• Possible vision loss due to eye problems

• Cleft palate

• Breathing problems due to the undeveloped jaws which cause the tongue to be placed near the throat area thus resulting to smaller airways.

• Eating problems due to mouth and jaw problems

Possible Complications for Treacher Collins Syndrome

• Speaking difficulties

• Feeding difficulties

• Communication problems

• Vision problems

Diagnosis of Treacher Collins Syndrome

The condition can be diagnosed through physical examination. Geneticists can also help parents deal with the condition if the defective gene is passed down to their unborn child.

Treatment for Treacher Collins Syndrome

Because this is an inherited condition, Treacher Collins syndrome is totally unpreventable, and the treatment may vary depending on each case. But treatment procedures are mostly focused on correcting the face and head abnormalities which include:

• Cheekbone repair

• Cleft palate repair

• Surgical correction for the underdeveloped jaws

• Eyelid reconstruction

• Ear reconstruction

• Nose reconstruction

• Orthognatic treatments

• Speech therapy

Treacher Collins syndrome is a very complex problem, hence, is best treated by a group of craniofacial experts. They are a team of specialist working together to help correct the child’s head and facial deformities. Genetic counseling can also help the family better understand the condition and the risks involved in passing the condition down to their children.

Teacher Collins Syndrome- Juliana Wetmore

One of the most moving stories one will ever hear or come across is about Juliana Wetmore who suffers from Treacher Collins Syndrome. This girl was born without face. Even though Treacher Collins Syndrome is a rare disease, the case of Juliana Wetmore is extremely an uncommon one.

Prenatal scans made doctors believe that the girl was suffering from cleft palate. However when Juliana Wetmore was born on March 2003; the reality dawned on to them and the family of the girl that their little sweetheart was suffering from Treacher Collins Syndrome.

The full extent of disfigurement of the face was such that Juliana had nothing that could be remotely called a face. She required urgent plastic surgery at such a young age to open her left eye and to open a nasal passage for breathing. Doctors who were treating her at the Shands Jacksonville Medical Center believed that hers was a very strange case that they had ever come across. An ill-figured skull prompted the doctors to do a CAT scan on her to find out if she indeed had a properly functioning brain, and to their relief, it was. She was born with 30 to 40 percent of bones missing in her face.

Dr S. Anthony Wolfe, Chief of plastic and reconstructive surgery stated that Juliana’s case was attributed to Treacher Collins gene and another abnormal gene which augmented the consequence. These genes had a negative effect on the embryo development, possibly during the intra-utero, stage. Juliana’s first surgery was when she was just 5 days old, when a feeding tube and a trach tube were inserted in her.

Julianna had no ears, so a bone conduction hearing aid was fitted on her. A pediatric speech and language pathologist called Judy Hammer-Knisely of the Wolfson Children’s Hospital in Miami started therapy on her. Of course, the malformed mouth did not allow her to eat as well as speak properly. She was fed through a pipe into her stomach and the therapy involved basic sign language.

The first 2 and a half years of her life was quite challenging for Juliana’s parents because apart from the multiple surgeries, she had many respiratory infections and pneumonia

In all these years, Juliana Wetmore has had more than 21 operations, from inserting a port-a-cath (a tiny medical device that is installed beneath the skin to connect to the vein) to major intracranial procedures. Her mother Tami says that Juliana will ultimately take her own decisions about surgeries when she grows up… As of now, their focus is not on cosmetic surgery but on the ones that will enable her to function without feeding tube or a trach.

Juliana’s next surgery is on September 28 where there will be an upgrade to her hearing aide implant. Also Dr. Wolfe will be trying to shape her cheek. As usual, the invasive procedure registers mixed emotions of dread and hope.

Juliana Wetmore now studies in 3rd grade. Her blog states that she loves going to school, she is up in the morning, with little help she can take a shower, wash her hair. She gets miffed when she is asked to hurry up. Juliana Wetmore loves to do things herself and her favorite quote is ‘I did it’!