Which are the symptoms of Treacher Collins syndrome?

Symptoms of Treacher Collins Syndrome

Treacher Collins syndrome, also known as mandibulofacial dysostosis, is a rare genetic disorder that affects the development of facial bones and tissues. It is characterized by a distinct set of physical features and can vary in severity from person to person. The symptoms of Treacher Collins syndrome primarily affect the head and face, but can also impact other parts of the body.

Facial Features:

One of the most prominent symptoms of Treacher Collins syndrome is the abnormal development of facial structures. These features may include:

• Underdeveloped or absent cheekbones: The cheekbones may be small or completely missing, leading to a flat appearance of the face.


• Downward slanting eyes: The eyes may be positioned at a downward angle, giving a droopy appearance.


• Small or absent lower eyelids: The lower eyelids may be underdeveloped or missing, causing the eyes to appear more open.


• Small jaw and chin: The lower jaw and chin may be smaller than normal, leading to difficulties with breathing, eating, and speech.


• Cleft palate: A cleft palate is a common feature in individuals with Treacher Collins syndrome. It is a split or opening in the roof of the mouth, which can cause feeding and speech difficulties.


• Malformed ears: The ears may be abnormally shaped, positioned lower than usual, or missing certain structures.

Hearing Loss:

Many individuals with Treacher Collins syndrome experience hearing loss due to the underdevelopment or absence of certain structures in the middle and inner ear. The severity of hearing loss can vary, ranging from mild to profound. It is important for individuals with Treacher Collins syndrome to undergo regular hearing evaluations and receive appropriate interventions such as hearing aids or cochlear implants if necessary.

Breathing Difficulties:

The abnormal development of the facial bones and tissues can lead to airway obstruction and breathing difficulties in individuals with Treacher Collins syndrome. This can result in respiratory problems, especially during sleep. Some individuals may require medical interventions such as a tracheostomy tube to ensure proper airflow.

Dental Issues:

Individuals with Treacher Collins syndrome often have dental abnormalities, including missing teeth, misaligned teeth, or a high arched palate. These dental issues can affect chewing, speech, and overall oral health. Regular dental care and orthodontic treatment may be necessary to address these concerns.

Eye Abnormalities:

In addition to the downward slanting eyes mentioned earlier, individuals with Treacher Collins syndrome may also experience other eye abnormalities. These can include coloboma (a gap or hole in the structures of the eye), drooping eyelids (ptosis), and vision problems such as nearsightedness or farsightedness.

Other Possible Symptoms:

While the symptoms mentioned above are the most common, Treacher Collins syndrome can also present with other less frequent features, including:

• Speech difficulties


• Feeding difficulties


• Delayed growth and development


• Intellectual disability (in rare cases)


• Genitourinary abnormalities

It is important to note that the severity and combination of symptoms can vary widely among individuals with Treacher Collins syndrome. Some individuals may have mild symptoms, while others may have more significant challenges.

If you suspect that you or your child may have Treacher Collins syndrome, it is crucial to consult with a healthcare professional who can provide a proper diagnosis and guide you towards appropriate medical management and support.