Information about Treacher Collins syndrome, including how it can affect you or your baby’s appearance, and what we can do to help.
Treacher Collins syndrome is a congenital condition (one present from birth) which affects the bones and tissues of the face. It develops early in pregnancy and can stop the cheekbones, jaw and eye sockets from developing as they usually would. This can lead to features such as a downward drooping eyes and a smaller jaw.
Treacher Collins syndrome occurs in about one in 50,000 newborn babies worldwide. The condition was named after Edward Treacher Collins, an ophthalmologist (eye doctor) who in 1900 published one of the first case studies on the syndrome. It is also known as ‘mandibulofacial dysostosis’ and sometimes ‘Franceschetti-Zwalen-Klein syndrome’.
Treacher Collins syndrome often leads to quite noticeable visible differences. If your child has Treacher Collins syndrome, you may be worried about how others may react to their appearance, particularly at school. Living with a visible difference can take a toll on your mental health and wellbeing, particularly if you experience unwanted attention or unkind reactions from others.
On this page, we take an in-depth look at what Treacher Collins syndrome is, as well as how you can manage the impacts a visible difference can have on you or your child’s life.
Looking back at photos from when he was born all I can see is a gorgeous baby but it has taken me a long time to get to this point.
Treacher Collins syndrome is usually obvious from birth. Babies with the condition may be born with a smaller-than-average jaw, eyes which slope downwards and one or two small or missing ears.
The condition can cause a range of other symptoms, including:
An underdeveloped jaw can lead to difficulties in breathing and feeding. Where the ears are underdeveloped, hearing can be impaired, particularly if the inner ear is affected.
Cognitive development is usually unaffected by Treacher Collins syndrome.
Treacher Collins syndrome is a genetic condition, but it is not always inherited. The condition is caused by a mutation affecting one of three genes. These genes are responsible for the formation of proteins linked to bone and tissue cell development in early pregnancy.
The three genes which may be affected are:
In six out of 10 cases, the mutation occurs out of the blue – meaning it is not passed on by either parent.
The visible signs of Treacher Collins syndrome are very distinctive and the condition is usually diagnosed based on the appearance of the baby after birth. In a small number of cases, the condition is picked up in an ultrasound during pregnancy.
The full extent of the condition may be identified by further investigations, for example, an X-ray or MRI scan.
When William was born, Kate was worried about how people would react to his appearance. Finding Changing Faces – knowing William is not alone – has been a big help. Although Kate is still anxious about William's future, she wouldn't change him for anything.
Read Kate's storyGiven the wide-ranging nature of Treacher Collins syndrome, treatment is best delivered by a multidisciplinary team. The makeup of this team varies from case to case, but may include:
The first priority is to deal with any breathing difficulties. In some cases, this may involve a tracheotomy (a cut in the windpipe into which a tube is inserted, to allow air to enter the lungs). Some babies may only need help breathing at nighttime.
If the baby is struggling to feed, a tube may be inserted into the stomach. This can sound scary, but it should only be a temporary measure, until surgery is carried out.
Other treatments may be required over the coming weeks, months and years:
As the child grows up, they may need further surgery to change the facial shape as they develop. Treatment tends to end between the ages of 16-20, when the patient has finished growing.
To get an idea of how a treatment regime may unfold, have a look at this example from the National Library of Medicine. Please note, this is US resource – it is an example only, your treatment plan may look very different.
Treacher Collins syndrome can have a significant impact on you or your child’s appearance. Because the condition affects the face, it is not usually possible to conceal your visible difference. The shape of your face – in particularly the eyes and jaw – is usually affected.
If you have several rounds of surgery throughout your childhood, your appearance may change, drawing further attention.
Looking different may make you feel self-conscious, and dealing with stares, comments and questions from others can take a toll on your mental health.
If you are the parent of a child with Treacher Collins syndrome, you may be worried that they will experience unkind treatment or even bullying at school and in other social settings. There are steps you can take to prevent bullying or nip it in the bud – we suggest that you take a look at our full range of advice posts for parents of children with visible differences.
We can help if you or your child is struggling with the impacts of Treacher Collins syndrome.
Our counselling and wellbeing support services are specially designed to help you manage the social, emotional and psychological effects of life with a visible difference. Our practitioners are trained to listen and provide guidance on the challenges you may be experiencing. Look at our dedicated page to learn more about counselling and wellbeing support and access the service.
Our online self-help guides covering all areas of life with a visible difference – from others’ reactions, going to work and even dating and relationships. We also have a range of resources for parents of children with visible differences – as well as for young people themselves. Our advice for parents and young people covers topics from building confidence and dealing with anxiety to school, friends and bullying.
We provide other services for people with Treacher Collins syndrome and other visible differences:
Contact our Support and Information Line to learn more – our friendly team offer support calls to help you deal with the impact of Treacher Collins syndrome on your life, and can also link you up with our other services.
Guidance, support and advice is also available from other organisations. Please follow the links to their websites to learn more.
A national, highly specialist psychological service based at North Bristol NHS Trust, supporting adults (16+) with appearance-related distress. They can provide face-to-face and remote support via NHS Attend AnyWhere. Please speak to your GP or healthcare professional to discuss a referral.
Great Ormond Street Hospital (GOSH), is a world-leading children's hospital in London, run by the NHS. As an international centre of child healthcare, GOSH treats a range of conditions affecting children and young people. Their website provides information on a range of conditions.