Treacher Collins Syndrome
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Treacher Collins syndrome: Know More About It

 Treacher Collins Syndrome is a case of genetic abnormality which is associated with some typical physical traits. “Mandibulofacial dysostosis”, “Franceschetti-Zwahlen-Klein syndrome” etc are some of the other names of this syndrome. According to statistical report one in ten thousand newborns is affected by this rare genetic disorder. This syndrome derives its name from an English ophthalmologist and surgeon - Edward Treacher Collins who first described some important features of this disease.

What Causes Treacher Collins Syndrome:

 A genetic flaw on chromosome 5 can cause Treacher Collins syndrome. Chromosome 5 is the crucial gene that controls the proper growth of the neck and head. Apart from that, the proportionate development and growth of bones is also controlled by this gene. So a flaw in this gene can lead to many complication and physical deformation. The mutation of the TCOF1 gene is one of the known causes of this syndrome. The effect of this syndrome may create some problem in the embryonic stage and this leaded to strange facial appearance of a newborn.

Though inheritance is thought to be the main cause of this syndrome, in some cases, mutation of new gene can cause this disease. It has been observed that approximately in 60% cases affected persons do not have any family history. In those cases, mutation of the gene is thought to be responsible for this syndrome.

Symptoms of Treacher Collins Syndrome:

 The symptoms of “Treacher Collins syndrome” can be evident at the initial stage. Small slanting lower jaw, notched eyelids, unusual large mouth etc are some of the common facial traits of this syndrome. Malformation of ear or the missing of ears can be one of the potent signs of this syndrome. The sidewall of eye socket and the cheekbones can suffer from malformation or appear underdeveloped. A patient can experience obstruction in the nasal passage. Unusual hair growth in some parts of the cheeks and small sized thumbs are some of the unique symptoms of Treacher Collins syndrome.

Sometimes the symptoms of this disease can vary from person to person. One can experience mild symptoms and others may have to face some severe symptoms. Large nose, unusual development of facial bones etc are some of the other common signs of this disease. Sometime, a patient can suffer from respiratory problems and if it is unnoticed, the patient may have to face some lethal consequences in future.

Some patients may face difficulties while eating or swelling foods and drinks. This is the reason why some patients use feeding tube for consuming food. One can suffer from hearing problems that may range from mild to severe. However those who are affected by this syndrome possess normal level of intelligence. But hearing problem can intervene in learning.

Cure Treacher Collins Syndrome:

 As Treacher Collins Syndrome is a genetic disorder, it can’t be cured or can’t be prevented in advance. But treatments have been developed in order to lessen the impact of this syndrome. Those who are facing mild symptoms can easily lead normal life but those who have severe symptoms, may have to brave some difficulties in their lives. Those who are suffering from hearing loss can bring down this symptom by taking the assistance of implanted hearing aids or conductive hearing aid.

When a patient is suffering from respiratory problem, a surgical operation can be conducted for correcting the position of the cleft palate. In this surgical operation, a tube is inserted in the respiratory passage for ensuring uninterrupted flow of air. This surgery can efficaciously reduce the problem of breathing. A surgical operation may be needed to rectify the facial deformities. For improving the condition of jaw, bones and nose, reconstructive surgery can be applied. One should visit a dentist if he is suffering from overcrowded teeth.


When a patient is facing problems while hearing, he can opt for specialized hearing aids. If one is facing some problems while interacting with someone, speech therapy can assist him immensely. One should consult with a medical practitioner forthwith for getting better result.

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