Treacher Collins Syndrome- Causes, Symptoms, and Treatments

Treacher Collins Syndrome refers to a rare medical condition that occurs due to a genetic mutation. The disease can affect the normal development of tissues and bones of the face. This eventually causes abnormalities of the face, ear, and head.

Treacher Collins syndrome is also known by several other names such as Treacher Collins-Franceschetti syndrome, mandibulofacial dysostosis, zygoauromandibular dysplasia, or Franceschetti-Zwahlen-Klein syndrome.

This syndrome is quite rare. According to the estimates, Treacher Collins syndrome affects one out of every 50,000 live births.

If you are interested in knowing more about this rare syndrome, its causes, and the possible treatments, keep reading the article.

What are the Signs and Symptoms?

There are no definite signs and symptoms of Treacher Collins syndrome. These can vary from one person to another. In some, the symptoms are hardly noticeable while in others, they can be extremely severe.

The disease can be extremely dangerous in some people who show severity in their symptoms. It can complicate to generate airway problems that may even make it difficult for some to survive.

The signs and symptoms of Treacher Collins syndrome can affect different parts of the body. The body parts most commonly affected by this disease include:

  • Eyes where it can lead to lazy eye, vision loss, and a loss of ability to focus on a particular thing
  • Chin
  • Jaws
  • Cheekbones
  • Lower eyelids which may undergo sparse, notching or lose the eyelashes
  • Ears, resulting in malformed, small, rotated, or absent ears
  • Displacement of hair in which the hairs are seen growing right in front of the ears, lateral to the cheekbones
  • Airways
  • Cleft palate which refers to a condition in which there is an opening in the roof of the mouth. This may or may not be followed by a cleft lip
  • Teeth
  • Nose

Because of the underlying abnormalities in the development of different structures such as ears or facial bones, hearing loss may also coexist in the patients.

Treacher Collins syndrome can also lead to a delay in speech development and motor reflexes.

Treacher Collins Syndrome

What are the Causes of Treacher Collins Syndrome?

The primary cause of Treacher Collins syndrome is the involvement of the hereditary patterns. Three genes play an important role in this regard which may undergo mutations and give rise to this disorder.

These genes include:

  • POLR1C
  • TCOF1
  • POLR1D

A mutation occurring in the TCOF1 gene is responsible for causing about 90 to 95 percent of the cases of Treacher Collins Syndrome. The other two genes i.e. POLR1C and POLR1D account only for the rest of the 8 percent.

All three genes are extremely important in the normal development of facial tissues and bones. When they undergo mutation, certain cells which normally would construct different facial features start destroying themselves.

About 40 percent of the people suffering from Treacher Collins syndrome have a parent who carries the mutated genes. In some cases, the patient may even have both parents who are carriers. In such circumstances, the disease is said to be inherited.

In the remaining 6 percent of the patients suffering from Treacher Collins syndrome, the disease occurs owing to a new mutation- a type of mutation that occurs for the first time.

If a certain mutation has been diagnosed in a particular family, the chances of every newborn getting Treacher Collins syndrome rise to a great deal. Hence, it is extremely important for every such family to get a prenatal consultation before every pregnancy.

How to Diagnose?

The diagnosis of Treacher Collins syndrome is based on the following procedures:

  • Genetic testing
  • Medical history
  • Physical examinations
  • Radiographic examination

The radiographic examinations include tests like X-rays of different types or Computed Tomography (CT) scans. These tests allow the doctor to confirm if the jawbones and the cheekbones have developed normally or carry an abnormality.

A craniofacial CT scan is often performed for analyzing the anatomical structures of ears, neck, head, and ear canal. This scan is used by the doctors to check if there is a hearing loss in a child during first six months of his life.

It is also a common practice to look out for teeth of the suspected individuals. The aim of this investigation is to look for any dental abnormality. The test can be performed around the time when the teeth first appear in a child.

Genetic tests are targeted at detecting mutations in the three genes mentioned above that are primarily involved in the development of Treacher Collins syndrome.

However, genetic testing is not necessary to make a diagnosis in most of the cases. This is because the doctor is able to formulate a diagnosis by only looking at the symptoms.

The basic use of genetic testing in case of Treacher Collins syndrome is during family planning in high-risk families.

Treacher Collins Syndrome

Once the initial diagnosis has been made, several other tests can be performed in order to check the severity of Treacher Collins syndrome. For this purpose, your doctor may check the following:

  • Hearing ability
  • The ability to swallow
  • The roof of the mouth to check for clefts
  • The eyes
  • The airways to observe if there is any predisposition to oropharyngeal obstruction

How to Live with Treacher Collins Syndrome

The treatment of Treacher Collins syndrome differs from person to person and mainly depends upon the individual needs. The care plan for people suffering from this problem involves various health professionals including:

  • An orthodontist
  • A pediatrician
  • A dentist
  • A geneticist
  • A speech therapist
  • Surgeon of face and neck
  • An eye doctor
  • Nurses
  • A specialist of ear, nose, and throat
  • A hearing specialist

For most of the newborns suffering from this disease, the treatment plans basically involve procedures that improve the breathing mechanisms. The special positioning of the infants is focused on along with a process in which an opening is made in the windpipe.

Doctors are able to treat Treacher Collins syndrome with the help of speech therapy and hearing aids. Surgeons, on the other hand, can repair different parts of the body such as face and roof of the mouth with the most appropriate surgical processes

The age of the patient is necessary for carrying out suitable surgical procedures. For example, the surgical repairs for mouth are carried out around the age of 1 to 2 years.

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The procedures for correcting jaw, cheek, or eye socket abnormalities require the patient to be 5 to 7 years of age. Ear corrections are suitable for a child more than 6 years of age and jaw correction is not made until the child reaches the age of 16.

The addition of stem cells to the cartilage and bones is also ensured as it improves the surgical outcomes, especially during the correction of face and skull abnormalities.

Many other potential treatment options are under investigations right now.

Outlook

Most of the children who suffer from Treacher Collins Syndrome usually have a normal development and mental health.

The outlook for each patient is different as it depends upon the specific symptoms and how severe they are. The life expectancy of people living with Treacher Collins syndrome is no different than the people without this disease.

The only exception in which the life expectancy may get reduced is when the disease causes a severe abnormality of the jaw or is able to affect the breathing mechanism.

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