Treacher Collins syndrome is a rare genetic condition that affects facial bone development, causing major facial deformities.
Children with the syndrome can have a very unusual facial appearance.
Also known asmandibulofacial dysostosis, Treacher Collins affects approximately one in 50,000 people worldwide.
Suzi Pratt/Getty Images
Because it is so uncommon, Treacher Collins is not well known outside the medical community.
This article discusses Treacher Collins syndrome and its symptoms and causes.
Suzi Pratt/Getty Images
What Are the Symptoms of Treacher Collins Syndrome?
There can be some variability in the severity of Treacher Collins syndrome.
The most prominent feature of the condition is its effect on facial appearance.
Other symptoms, such as hearing, vision, and smell deficits, may be less noticeable during infancy.
Breathing difficulties can begin during infancy or may develop later in life.
The symptoms of Treacher Collins Syndrome include:
What Is the Main Cause of Treacher Collins Syndrome?
Treacher Collins syndrome is resulting from underdevelopment of a childs facial bones, beginning before birth.
It is unclear why this deficiency in treacle protein specifically affects the bone structure of the face so severely.
In Treacher Collins, the mutation results in a problem with physical features.
At least 200 different defects have been known to occur on this chromosome.
Other genetic abnormalities can also cause Treacher Collins syndrome, although the TCOF1 abnormality is the most common.
Inheritance Pattern
Fewer than half of children with Treacher Collins syndromeinherit it from their parents.
Parents who have the condition will pass on the genetic defect to half of their children.
However, this not is enough to support the normal formation of the bones and tissues of the face.
X-rays are often needed to assess the exact structure of the bone deformities for surgical planning.
Specialized diagnostic tests are necessary to assess hearing and vision.
Vision may improve with surgical correction of anatomical structural abnormalities or with visual aids.
In some instances, respiratory support with a mechanical respiratory gadget may be necessary.
It can be painful for parents, siblings, and other family members to watch.
Psychological counseling, family counseling, and support groups may be helpful.
Summary
Treacher Collins syndrome is a rare genetic condition that affects the way the face develops.
Breathing difficulties may be present at birth or may develop later on.
Treacher Collins can affect a person’s social experiences and self-esteem.
People with the condition and their families can benefit from support groups, counseling, and other services.
2021;50(11):1471-1476. doi:10.1016/j.ijom.2021.03.001
National Organization for Rare Disorders.Treacher Collins syndrome.
A review.J Stomatol Oral Maxillofac Surg.
2017 May;28(3):683-687. doi: 10.1097/SCS.0000000000003470.
2017 Sep;140(3):571-580. doi: 10.1097/PRS.0000000000003584.
