Treacher Collins syndrome (TCS) affects the way the bones of the face develop before
a baby is born. This can impact many things, but children with TCS typically have
normal intelligence and life expectancy.
TCS — also called mandibulofacial dysostosis and Treacher
Collins-Franceschetti syndrome — is caused by a genetic
mutation (a change in a person's DNA).
What Are the Signs & Symptoms of Treacher Collins Syndrome?
Symptoms of TCS can be mild or severe. The same TCS mutation can affect one family
member much more than another, a difference called penetrance. Symptoms
can be so mild that a parent may have the mutation and not notice the symptoms (low
penetrance) until the mutation passes to a child who has more obvious symptoms (higher
Treacher Collins syndrome causes changes that are usually symmetrical, meaning
both sides of the body look the same. These changes include:
downward slant of the outer corners of the eyes
drooping upper eyelids
notches in the lower eyelids with few, if any, lower lid eyelashes
fewer teeth than usual; they may be crooked and have patchy coloring
small mandible (lower jaw) causing an overbite (the chin and lower teeth sit back
from the upper teeth)
hearing loss because sound is poorly transferred by the tiny bones in the middle
What Causes Treacher Collins Syndrome?
Almost all children with TCS have a mutation (change) in one of three genes that
control bone growth in and around the face. The mutation causes a change in a baby's
growth very early in pregnancy. For a few people with TCS, the gene causing the problem
is not known.
Who Gets Treacher Collins Syndrome?
Most of the time, TCS is caused by a new mutation. This means neither parent has
the TCS gene or TCS symptoms. If the mutation is new, the DNA change happened just
before or soon after sperm fertilized the egg. If one parent has Treacher Collins
syndrome, the child may also have it, but this depends on which gene is affected.
How Is Treacher Collins Syndrome Diagnosed?
The way a baby's face looks at birth will cause doctors to think about TCS as the
most likely diagnosis. X-ray images of the child's facial bones can identify the characteristic
features of TCS. Genetic
testing can confirm the diagnosis.
If the condition is suspected in other family members, genetic testing can determine
whether there's a TCS mutation.
How Is Treacher Collins Syndrome Treated?
People with Treacher Collins syndrome benefit from regular visits with a craniofacial
team of health professionals. The team includes doctors and other providers with special
brain and skull issues (neurosurgery)
ears, nose, and throat problems (otolaryngology)
eye problems (ophthalmology)
the structure of the head and face (plastic and craniofacial surgery)
teeth and mouth issues (dentistry and maxillofacial surgery)
Treatment begins at birth. Newborns may have trouble breathing because their airways
are narrow. Some positions, like lying on the stomach, can help make breathing easier.
For severe breathing problems, a child might need a tube inserted into the windpipe
(called a tracheostomy). Some babies have problems with feeding,
especially when it interferes with breathing. So they might need a feeding tube into
the stomach through the nose.
Unless a child with TCS has breathing or feeding problems, most facial reconstruction
surgery is done over a number of years when the child is older. Surgery of the face
and jaw can improve appearance, and have a positive effect on a child's self-esteem
and social interactions.
Hearing should be
checked at birth and routinely as a child grows. Because the inner ear still works
well in most children with TCS, hearing aids that transmit sound through the bone
instead of the middle ear can work well. Speech-language therapy is often needed.
Kids with TCS need regular eye
exams to check for problems with vision, eye movements, and cornea exposure (because
they can't close their eyelids completely).
How Can Parents Help?
It is important to find a cleft and craniofacial team to care for your child. Ask
your pediatrician for recommendations, or look online for accredited craniofacial
teams in your area at ACPA.
Having Treacher Collins syndrome can be challenging for a child and the whole family.
Support your child. Encourage your child to find a hobby or activity
they enjoy. Sticking with it can help your child develop a skill and a sense of satisfaction
they can carry with them throughout their life.
Ask about therapy. If your child feels anxious about social situations,
meeting with a psychologist or other mental
health professional might help.
Consider meeting with a genetic counselor. A genetic
counselor can help you understand the risks of the condition for future pregnancies.
Ask your doctor for a recommendation.