Treacher Collins, also known as the Treacher Collins–Franceschetti syndrome is a rare autosomal congenital disorder characterized by extreme facial deformities. Other prominent features include slanting eyes, hearing disorders and absent ear/ears, comparatively smaller jaw (lower). There is also an underdeveloped zygoma in some cases. However these deformities do not impact the normal growth, development and intelligence of the child. Hearing tests however are needed especially in the initial stages. In fact, early therapies such as speech and language programs can be of an utmost help.
A person born with this syndrome has his/her soft tissues affected. The development of the bones in the face and skull also gets affected giving him/her abnormally shaped lower jaw, cheeks and eyes. Also known as the mandibulofacial dysostosis an English physician and ophthalmologist described it in the 1900s. The learning abilities of the children born with this syndrome might get severed due to hearing disorders. The facial deformities can also cause troubles in the breathing and eating process.
Why does it happen?
Treacher Collins Syndrome is caused by genetic changes in the chromosome 5 that is responsible for the facial deformities. Almost 40 percent of one parent has the Treacher Collins Syndrome gene. Thus, the child may inherit the Treacher Collins Syndrome from a parent who is also affected with Treacher Collins. Even the children of unaffected parents can get it and one child in every 50,000 births is affected. It is also caused by a new kind of genetic mutation during conception. The trigger of this mutation is unknown as of now. The syndrome has no cure, however the skull and face can be improved through a surgery and therapies can help improve the speech. The medical community across the globe has discovered almost 50 different changes in the TCOF1 that causes Treacher Collins syndrome. Again, how exactly faulty gene leads to the facial deformities are unknown. One argument is that the cell death, also known as apoptosis could be responsible for the facial defects. The extent of facial abnormalities in the case of inherited TCS is unpredictable.
Treacher Collins Syndrome – Life Expectancy
The life expectancy of a person who is born with this syndrome is similar to someone born without it. It is not a life-threatening medical condition but the respiratory disorders can cause deaths. Other than that people can live a normal and long life with proper treatments and therapies.
Symptoms of Treacher Collins Syndrome
The characteristics of the symptoms among people with Treacher Collins syndrome differ. Some people can only have mild impacts and this can hamper their diagnosis, often making them remain undiagnosed, on the other hand some people can have severe facial abnormalities that can cause fatal airway/breathing disorders. A lot of the signs are prominent and recognizable at birth.
Some of the symptoms are as follows:
- Facial abnormalities: A more medical term for this is Hypoplasia. There is an underdeveloped of the mandibular and zygomatic bone causing the small and malformed jaw. It can also lead to a malocclusion. An abnormally narrow skull can also be identified.
- Ear deformities: The ears can be tiny, twisted with absent auricles. Other external deformities include bilateral stenosis, atresia, dysmorphic middle ear cavity often causing hearing loss.
- Eye problems such as the colobomata of lower eyelids, missing eyelashes and absence od eye lashes. Vision loss can also occur.
- Cleft palate.
- Breathing disorders due to facial deformities.
- In more than 50% of the cases people suffer from dental anomalies such as tooth agenesis, maxillary first molars and mandible hypoplasia causing malocclusion. These dental disorders can impact the food intake such as in chewing, swallowing and closing the mouth.
- Nasal deformity.
- Hair displacement.
- Increasing eye infections due to drying out of the eyes also known as the dry eyes syndrome.
Even though the syndrome doesn’t affect the cognitive processes, the hearing loss and deafness can impact the overall learning processes. The cleft palate can enhance speech problems apart from eating/feeding problems. Some people can also experience depression and low self-esteem mainly due to the social stigma.
Some tests that are used to diagnose Treacher Collins syndrome are:
- Overall physical examination by analyzing the medical history
- Genetic testing – this is rarely required as the diagnosis can be done on the basis of the physical features alone.
- The obstetricians are usually able to diagnose the baby at the time of birth or pregnancy with the help of a routine ultrasound.
The treatment depends on the severity of the condition and the symptoms and can include:
- Genetic counseling
- Hearing aids
- Dental correction
- Speech therapy to enhance the communication skills and feeding disorders
- Speech pathologists also work with people who have trouble swallowing food or drink
- A surgery to improve not only the appearance but functions.
- Reconstruction of lower eyelids, ears, lower jaw, nose and cleft palate.
Treacher Collins Syndrome – Pictures
Here are pictures of people with Treacher Collins Syndrome, each of them carrying their own inspirational story.
Filed in: Conditions