Treacher Collins Syndrome enparentshttps://kidshealth.org/EN/images/headers/Treacher_Collins_Syndrome_enHD_1.jpgTreacher Collins syndrome (TCS) refers to a group of facial features that some babies are born with. TCS causes distinctive abnormalities of the head and face, but doesn't affect intelligence or lifespan.genetic disorders, wonder, auggie, TCS, Treacher Collins Syndrome, treacher, collins, treacher collins, wonder book, wonder movie, facial, genetic, genes, genetic mutation, birth defect, face bones, facial bones, facial deformities, ears, eyes, cheekbones, downward-slanting eyes, small jaw and chin, hearing loss, vision loss, chin, craniofacial abnormalities, craniofacial, jawbone, mandibulofacial dysostocis11/14/201701/10/202001/10/2020Brian C. Kellogg, MD and Ani Danelz, CCC-SLP08/12/20190afd490d-b7f9-4213-b437-80b0718564b0https://kidshealth.org/ws/RadyChildrens/en/parents/tcs.html/<h3>What Is Treacher Collins Syndrome?</h3> <p>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.</p> <p>TCS &mdash; also called <strong>mandibulofacial dysostosis</strong> and <strong>Treacher Collins-Franceschetti syndrome</strong> &mdash; is caused by a <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/about-genetics.html/">genetic</a> mutation (a change in a person's DNA).</p> <h3>What Are the Signs &amp; Symptoms of Treacher Collins Syndrome?</h3> <p>Symptoms of TCS can be mild or severe. The same TCS mutation can affect one family member much more than another, a difference called <strong>penetrance</strong>. 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 penetrance).</p> <p>Treacher Collins syndrome causes changes that are usually symmetrical, meaning both sides of the body look the same. These changes include:</p> <ul> <li>downward slant of the outer corners of the eyes&nbsp;</li> <li>drooping upper eyelids</li> <li>notches in the lower eyelids with few, if any, lower lid eyelashes</li> <li>small cheekbones</li> <li>fewer teeth than usual; they may be crooked and have patchy coloring</li> <li>small mandible (lower jaw) causing an overbite (the chin and lower teeth sit back from the upper teeth)</li> <li>open or split roof of the mouth (<a class="kh_anchor">cleft palate</a>) and upper lip (<a href="https://kidshealth.org/ws/RadyChildrens/en/parents/cleft-lip.html/">cleft lip</a>)</li> <li>small, unusually shaped ears</li> <li>small or missing ear openings</li> <li>hearing loss because sound is poorly transferred by the tiny bones in the middle <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/ears.html/">ear</a></li> </ul> <h3>What Causes Treacher Collins Syndrome?</h3> <p>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.</p> <h3>Who Gets Treacher Collins Syndrome?</h3> <p>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.&nbsp;If one parent has Treacher Collins syndrome, the child may also have it, but this depends on which gene is affected.</p> <h3>How Is Treacher Collins Syndrome Diagnosed?</h3> <p>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. <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/genetics.html/">Genetic testing</a> can confirm the diagnosis.</p> <p>If the condition is suspected in other family members, genetic testing can determine whether there's a TCS mutation.</p> <h3>How Is Treacher Collins Syndrome Treated?</h3> <p>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 training in:</p> <ul> <li>brain and skull issues (neurosurgery)</li> <li>ears, nose, and throat problems (otolaryngology)&nbsp;</li> <li>hearing (audiology)</li> <li>eye problems (ophthalmology)</li> <li>the structure of the head and face (plastic and craniofacial surgery)</li> <li>teeth and mouth issues (dentistry and maxillofacial surgery)</li> <li>speech problems (<a href="https://kidshealth.org/ws/RadyChildrens/en/parents/speech-therapy.html/">speech-language therapy</a>)</li> <li>genetics</li> </ul> <p>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 <strong>tracheostomy</strong>). 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.</p> <p>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 <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/self-esteem.html/">self-esteem</a> and social interactions.</p> <p><a href="https://kidshealth.org/ws/RadyChildrens/en/parents/hear.html/">Hearing</a> 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.</p> <p>Kids with TCS need regular <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/vision.html/">eye exams</a> to check for problems with vision, eye movements, and cornea exposure (because they can't close their eyelids completely).</p> <h3>How Can Parents Help?</h3> <p>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 <a href="https://cleftline.org/find-a-team/acpa-approved-teams-in-the-us-and-canada/">ACPA</a>.</p> <p>Having Treacher Collins syndrome can be challenging for a child and the whole family. To help:</p> <ul class="kh_longline_list"> <li><strong>Support your child.</strong> 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.</li> <li><strong>Ask about therapy.</strong> If your child feels anxious about social situations, meeting with a psychologist or other <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/finding-therapist.html/">mental health professional</a> might help.</li> <li><strong>Consider meeting with a genetic counselor.</strong> A <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/genetic-counseling.html/">genetic counselor</a> can help you understand the risks of the condition for future pregnancies. Ask your doctor for a recommendation.</li> </ul>Síndrome de Treacher CollinsEl síndrome de Treacher Collins afecta a la forma en que se desarrollan los huesos de la cara antes de que nazca un bebé. 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