Medically reviewed by Oghenefejiro Okifo | MD, Harvard Medical School | Henry Ford Hospital - Detroit, MI on April 17th, 2024.
Treacher Collins Syndrome (TCS) is a rare genetic condition that affects the development of a baby's face. If your child has been diagnosed with TCS, you may have many questions and concerns. This guide will help you understand the causes, symptoms, and treatment options available for your child.
TCS is a condition that affects about one in every 50,000 babies born. It is caused by an abnormal gene that affects how the face forms during development. Babies with TCS are born with atypical ears, eyelids, cheek bones, and jawbones. While there is no cure for TCS, surgery and other treatments can make a significant difference in your child's quality of life.
TCS is always genetic, but it is not always inherited. In about 60% of cases, neither parent carries the gene responsible for the condition. For these children, the chances of passing TCS along to their own children are quite low. In the other 40% of cases, the child inherits the condition from a parent who carries the gene. In these cases, there is a 50% chance of passing TCS along with each pregnancy.
The physical signs of TCS can vary from child to child, ranging from mild to severe. Some common signs and symptoms include:
Flat, sunken, or sad appearance of the face
Underdeveloped cheekbones
Downward slanting eyes
Missing eyelid tissue
Notch in the lower eyelid
Cleft palate
Abnormal airway
Small upper and lower jaw and chin
Misshapen or missing ears
Skin growth in front of the ear
These physical differences can lead to difficulties in breathing, sleeping, eating, and hearing. Dental problems and dry eyes may also increase the risk of infections.
In many cases, a doctor can diagnose TCS by examining your baby after birth. However, they may also recommend X-rays or other imaging tests to assess the extent of the condition. Genetic tests can confirm the presence of gene changes that cause TCS. If you are considering genetic testing, it is essential to speak with a genetic counselor who can explain the test and its implications.
While there is no cure for TCS, various treatments can help manage the condition and improve your child's quality of life. The specific treatment plan will depend on your child's individual needs and the severity of their condition. Some common treatment options include:
Surgery to repair cleft palate, eye sockets, eyelids, nose, cheekbones, jawbone, and ears
Hearing aids and speech and language programs to address hearing loss and speech difficulties
Breathing assistance, such as tubes, to help with respiratory issues
It is crucial to work with a team of specialists, including surgeons experienced in facial and head operations, to develop a comprehensive treatment plan for your child.
Raising a child with TCS can be challenging, both emotionally and socially. Joining a support group for families with children who have TCS or other birth defects can provide valuable information, resources, and emotional support. Remember, there is a lot of help available to assist you in caring for your child and ensuring they have the best possible quality of life.
For more information and support, visit:
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