Home / Magazine / What is Treacher Collins syndrome, what are the symptoms, how common is it and what causes it? All you need to know

What is Treacher Collins syndrome, what are the symptoms, how common is it and what causes it? All you need to know

TREACHER Collins syndrome (TCS) is a genetic condition which affects the way children’s faces are formed.

Here’s everything you need to know about TCS, including what causes it and how it’s treated.

 Ashley Carter, 17, has previously spoken out about life with the conditionITV Ashley Carter, 17, has previously spoken out about life with the condition

What is Treacher Collins syndrome?

Treacher Collins syndrome is a condition which affects bones and tissues in the face.

Also known as mandibulofacial dysostosis, sufferers of the condition will be born with facial deformities, often including downward slanting eyes, malformed ears and a small lower jaw.

Great Ormond Street Hospital says the signs and symptoms of the condition are very variable, ranging from mild to severe.

But the condition often causes problems with the formation of a child’s cheekbones, jaw and eye sockets, resulting in a characteristic appearance among sufferers.

Some children with the condition will have a cleft palate and coloboma – a notch in the lower part of the eye.

And many children’s ears will be affected, either being very small or, in some cases, completely absent.

This can cause hearing problems if the ear’s internal structures are also underdeveloped.

Meanwhile, if the jaw is small or underdeveloped, this can cause problems with feeding and breathing.

 Brave Ashley Carter, from Somerset, was born without ears or cheekbones as a result of the conditionSWNS:South West News Service Brave Ashley Carter, from Somerset, was born without ears or cheekbones as a result of the condition

What causes Treacher Collins syndrome?

Treacher Collins syndrome is a genetic condition.

It is caused by mutations in the genes responsible for forming a baby’s bone and tissue cells in the womb.

The mutation can be passed on from parents to their children, but in many cases it just develops out of the blue.

How common is Treacher Collins syndrome?

Treacher Collins syndrome is rare, occurring in around one in 50,000 births in Europe.

However, the exact number of people affected is not known, as some sufferers have very mind symptoms which are never diagnosed.

 The condition affects children like Ashley at birth, often needing extensive attention throughout the child's lifeITV The condition affects children like Ashley at birth, often needing extensive attention throughout the child’s life

How is Treacher-Collins syndrome treated?

Because the condition is so complex, it is usually managed by a team of specialist surgeons, hearing experts, and speech therapists.

Breathing support is an initial priority when a baby is born with TCS, with some children needing an artificial opening in their windpipe.

When the child is a bit older, surgeons will attempt to treat any jaw deformities using bone grafts and other surgical methods.

More corrections may be needed to the child’s face as their bones grow, while some sufferers benefit from cochlear implants and speech therapy.

The long-term outlook for people with TCS depends on how severe their symptoms are, and how much they impact breathing, vision and hearing.

Ashley Carter talks about Treacher Collins Syndrome and bullying

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