What is Treacher Collins Syndrome?

Treacher Collins syndrome is a genetic condition that causes abnormalities of the bones and tissues of the face, head, and ears. The cheekbones, eye sockets, and jaw do not properly develop during pregnancy. The syndrome presents with variable levels of severity, being almost unnoticeable or pronounced. People with this disorder may have problems with sight, hearing, breathing, or cleft palates. Treacher Collins syndrome does not affect mental health.

Signs and Symptoms of Treacher Collins Syndrome

The signs and symptoms of Treacher Collins syndrome are:

Eyes that slant down and away from the nose

Few eyelashes

A notch in the bottom eyelids

Missing or unusually formed ears

A small jaw

Unusually formed nose or skull

Hearing loss

Problems with the airways

Sleep apnea

Difficulties feeding in children

Delayed motor and speech development

Dental anomalies

Diagnosis of Treacher Collins Syndrome

It is usually easy to diagnose Treacher Collins syndrome because individuals with this condition have specific facial characteristics, although some other conditions cause similar physical attributes. X-rays and other techniques can confirm the diagnosis.Sometimes, diagnosis may include identifying a milder form of the disease in the child’s parents. If the parents carry the mutated gene, they have a 50% chance of having another child with Treacher Collins syndrome. In pregnancy, ultrasonography may be able to pick up various abnormalities in the head and potentially diagnose the condition before the child is born.

Causes of Treacher Collins syndrome

A genetic mutation causes Treacher Collins syndrome. Around 40% of those with Treacher Collins syndrome inherit it from their parents. 60% have a new genetic mutation. A mutation to the TCOF1 gene is the most common cause, accounting for around 90% of cases. The POLR1C and POLR1D genes may also mutate. Some researchers think these genetic mutations reduce the production of ribosomal RNA, which may lead to cell death in the tissues of the bones and face.

Treatment of Treacher Collins Syndrome

Multiple health professionals may be involved in the treatment of individuals with Treacher Collins syndrome. Doctors will monitor and treat newborns to make sure their airways are functioning properly. This may require surgical intervention such as opening the windpipe. If hearing is affected, the child may require a hearing aid or speech therapy in the future. Surgery can rebuild or adjust abnormally developed areas such as the roof of the mouth, skull, cheekbones, eyelids, and jaw. The type of surgery required will determine the age at which the child undergoes the procedure.

The Prognosis for Treacher Collins Syndrome

The prognosis for people with Treacher Collins syndrome depends on how their symptoms affect them. Severe cases can lead to death in babies due to problems with the airways. However, in the majority of cases, Treacher Collins syndrome does not affect a person’s life expectancy.

Prevalence of Treacher Collins Syndrome

In Europe, one in 50,000 people is affected by Treacher Collins syndrome. Internationally, this rate varies from one in 10,000 to one in 50,000. Some sources say the condition could affect as many as one in 70,000 people. Sometimes, individuals with a mild form of the syndrome go undiagnosed, affecting these statistics.

Counseling and Support for Treacher Collins Syndrome

People with the mutation or the manifesting condition can receive genetic counseling if they plan to have children. Psychologists or support groups can also help individuals with Treacher Collins syndrome deal with the challenges that may come with their condition.

Other names for Treacher Collins Syndrome

Like the term Treacher Collins, other doctors or researchers have had their names linked with this condition, in recognition of their historical discoveries or research. In certain circles, Treacher Collins syndrome may also be called

Franceshetti-Zwahlen-Klein syndrome

Mandibulofacial dysostosis (MFD1)

Treacher Collins-Franceshetti syndrome

Zygoauromandibular dysplasia

History of Treacher Collins Syndrome

Treacher Collins syndrome was first described by Edward Treacher Collins (1982-1932), a British surgeon and ophthalmologist who wrote about the features of the condition in 1900. Adophe Franceshetti and David Klein described the condition separately later that century and some of the alternative, descriptive names for the condition have been put forward as a result.

Treacher Collins Syndrome in the Media

Treacher Collins syndrome has been portrayed in the media a number of times, bringing some public awareness. The New York Times published an article on the disorder in 1977. There have also been characters with Treacher Collins in the TV show Nip/Tuck, numerous BBC documentaries, and the 2017 film adaption of the book Wonder.