Treacher Collins Syndrome: Brazilian Baby Born Without A Face



9 years ago, Vitoria Marchioli was known as the baby born without a face. How possible is that you may ask.

Vitoria was born with a rare disorder known as Treacher Collins Syndrome (TCS). This condition is the reason for her facial deformity. In her case, 40 of her facial bones were underdeveloped.

The miracle child from Barra de São Francisco in Brazil, has her eyes, mouth and nose displaced.

At her birth, medics did not see any hope for her staying alive. Her parents likewise found it strange but unlike the doctors stuck to supporting their child all the way.

According to her father, 39 year old Ronaldo:

“She looked a little strange when she was born she had a big opening on her face and a very open eye, she was different from our other children.”

“Doctors told us she would not survive and that she only had one or two hours to live, they didn’t give her any chance of survival.”

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Vitoria Marchioli

Against all odds, Vitoria Marchioli far outlived doctor’s predictions. She just celebrated her 9th birthday.

“She does not have any life expectancy, we do not know how long she will survive, we didn’t expect her to make it until her ninth birthday but are so grateful she has.”

Stunned by her unimaginable progress, medics have attributed her staying alive to her family’s unprecedented love and care.

So far she’s had 8 reconstructive surgeries for her eyes, nose and mouth in 6 years. Recently she underwent a surgery to help stimulate her motor functions at Shriner’s Hospital in Texas, USA.

Vitoria’s parents, Ronaldo and Jocilene say they have no intention on leaving any stone unturned as it concerns her treatment and medication.

“We’re hoping to continue fundraising to give our daughter a better quality of life and giving her the best appearance we can.”

“We fight for her so that she can look better and have a better quality of life. We love her and are thankful for having her alive.”

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Vitoria Marchioli

Treacher Collins syndrome

Treacher Collins syndrome is a rare disease that affects just one in 50,000 people. TCS affects the development of bones and tissues in the face.

The signs and symptoms of the disorder vary from case to case. However, TCS patients typically have underdeveloped facial bones, particularly the cheekbones; and a very small jaw and chin.

As in Vitoria Marchioli’s case the disease causes an opening in the roof of the mouth (cleft palate). In some other it makes the ears smaller and the eyes drawn downwards.

Depending on the intensity, TCS can cause severe respiratory problems.

TCS is most commonly caused by an alteration in the development of the pharyngeal arches and assembly of ribosomes. It is often due to a mutation in the TCOF1 gene and in the POLR1C or POLR1D genes.

There is yet no cure for the Treacher Collins syndrome. However the condition can be managed with reconstructive surgeries, hearing aids, amongst other supportive recommendations.

Above all, TCS patients are human beings who should be respected regardless of their appearance or challenges. A stigma-free environment can do wonders for their health and wellbeing.