Treacher Collins Syndrome

Treacher Collins Syndrome is a rare bone condition. It affects the development of facial bones and other tissues. The symptoms of this disorder vary depending on the person. In some cases, the symptoms are hardly noticeable.

This is disorder is so rare that it is found in one person per 50,000.

The most common physical features of Treacher Collins Syndrome apparent on the face are small lower jaw, downward slanting eyes, malformed ears and drooping lateral eyelids. This disorder is named after Edward Treacher Collins, an English surgeon. In 1900, he described the essential traits of the disorder.

Signs and Symptoms of Treacher Collins Syndrome

As it has been said the symptoms of the disorder varies depending on people. Some lucky ones get mildly affected. In these cases, the patients go undiagnosed. Others suffer from severe facial bone disorder. They might even suffer from life threatening disorders impacting the airways. The main features of Treacher Collins Syndrome can be recognized at the time of birth.

The abnormalities of Treacher Collins Syndrome can cause problem in eating, breathing or hearing. The symptoms of the disorder can be divided into three parts, ears, face, jaw and teeth.

Ears

Small ears are a common symptom of this disorder. Those who suffer from Treacher Collins Syndrome have significantly small ears.

Missing ears is another symptom of suffering from Treacher Collins Syndrome.

Some patients are born with no ear canals which is yet another symptom of Treacher Collins Syndrome (TCS).

Apart from these other ear defects have been reported by the people suffering from the disease too.

Face

Missing cheekbones is a significant symptom of Treacher Collins Syndrome. It has been noticed in people who suffer from this bone disorder.

Superior brow bones is another symptom of Treacher Collins Syndrome.

Some suffer from downward slopping eyes.

Falling of the lower eyelid is a common symptom of this disorder.

Wide mouth has been detected among the patients suffering from the bone disorder.

Jaw and Teeth

People with this disease sometimes have limited mouth opening.

Small lower jaw is a symptom which some patients experience.

Downward angle of upper and lower jaws can occur too.

Abnormality in skull shape is not unique in this case. However, short skull with tendency towards narrowing is noticed in some cases. In 60% of patients, dental irregularities are detected. In some rare cases, dental irregularities cause problem with eating and ability of closing the mouth.

Some deformities are frequently seen in TCS cases –

Nasal abnormality

High palates

Presence of coloboma in upper eye lid is a common symptom. Coloboma refers to a hole in the structure of eyes since the time of birth.

Choanal atresia is another symptom, where the area behind the nasal track (choana) is blocked.

Causes of Treacher Collins Syndrome

TCS is caused due to mutation of genes. TCOF1, POLR1C or POLR1D genes are the ones, mutation of which cause the disease. The genetic defect is caused by combination of different genes for a particular attribute. This is a genetic defect which usually children inherit from their father and mother.

Dominating genetic deformity occurs when only a single abnormal gene is required for the disease. The abnormal gene can be inherited from either of the parents. Or it can be the result of some new mutation in the affected individual. In 60% of cases the TCS is the result of a new mutation.

However, in these cases as well, one of the parentd might be affected. But, due to the mild symptoms, the disease might have gone untreated. There is 50% chance of passing on the disease to offspring. This risk is there for each pregnancy when either of the parent is affected by the disease, even if the previous child is unaffected by the disease. The younger one might suffer from it.

Recessive genetic disorder is a common defect. It occurs when someone inherits the similar abnormal gene for similar trait from each of the parents. In case, someone inherits a normal gene and one abnormal gene, the person might not show any symptom. The individual will just be a carrier of the disease.

Affected People

TCS is known to affect both male and female equally. This disease is rarely noticed as people with mild symptoms don’t show any sign of carrying it. This is the reason the frequency of the disease cannot be determined sometimes.

Treatment for Treacher Collins Syndrome

There is no complete cure for TCS. The treatment requires the efforts of a team of specialists. Doctors usually keep the patients in regular observation. They look for abnormalities. Full assessment is required at a very early age. This should be done even before the child turns a year old. This needs to be done to ensure proper speech development Since 40 percent of children’s case include hearing loss, the doctor may recommend a hearing aid.

In some cases, surgical procedure is required to treat a patient. Surgery might be required to treat jawline deformation or to reconstruct other bones in the skull. This needs to be remember that all the deformities cannot be treated at the same time. Different disorder needs to be treated in different ages.