What is Treacher Collins Syndrome?

Treacher Collins Syndrome is an extremely rare genetic pathological condition which is characterized by congenital deformities of the face and head. The abnormalities that can be observed in the craniofacial region as a result of Treacher Collins Syndrome include: Underdeveloped jaws, cheekbones, and mouth. This results in the child finding it difficult to breathe and even feed. Ocular malformations are also one of the features of Treacher Collins Syndrome with observation of palpebral fissures along with abnormalities of the external and middle ears making it difficult for the child to see and hear.

Due to Treacher Collins Syndrome, a child may also show developmental delays and psychomotor retardation due to the brain not being fully developed. The symptoms caused by Treacher Collins Syndrome are extremely variable and tend to differ from individual to individual.

Some children may be so mildly affected by Treacher Collins Syndrome that they may be completely asymptomatic and the disease may remain undiagnosed whereas in some children the symptoms of Treacher Collins Syndrome may be so severe so as to cause certain life threatening complications.

The main cause of Treacher Collins Syndrome is mutation in genes TCOF1, POLR1C or POLR1D genes. This condition follows both autosomal dominant and autosomal recessive traits meaning that a child may get this condition with either one copy of the faulty gene being inherited from any parent and two copies of the faulty gene which need to be inherited from each parent depending on the mutation in gene in order to develop Treacher Collins Syndrome.

What is Treacher Collins Syndrome?

What are the Causes of Treacher Collins Syndrome?

As stated, the main cause of Treacher Collins Syndrome is mutation in genes TCOF1, POLR1C or POLR1D genes. When there is mutation in TCOF1 gene, the disease condition is inherited as autosomal dominant, whereas if there is mutation in the POLR1C gene it is autosomal recessive. In cases of mutation in POLR1D, it can be both autosomal dominant as well as autosomal recessive.

The majority of the cases of Treacher Collins Syndrome are as a result of mutation in gene TCOF1 estimating to about 80-90%. The function of the TCOF1 gene is to produce proteins called treacle.

The exact functioning of this protein is not totally understood but it is believed to be associated with the development of bones and cartilages required for development of face during the embryonic stage of development.

A decrease in the production of this protein is what that results in the underdevelopment of the face and head resulting in Treacher Collins Syndrome.

What are the Symptoms of Treacher Collins Syndrome?

The symptoms of Treacher Collins Syndrome are significantly variable and differ from individual to individual. Some children may be asymptomatic while others may have potentially serious symptoms. The majority of the symptoms of Treacher Collins Syndrome affect the cheekbones, jaws, eyes and ears which may cause problems with chewing, breathing, hearing, seeing and even in some cases speaking. Some of the common symptoms of Treacher Collins Syndrome are:

  • Small and underdeveloped jaw and chin
  • Underdeveloped cheekbones
  • Abnormally short ears
  • Downward slanting eyes
  • Hearing deficits
  • Cleft palate
  • An underdeveloped or small airway causing breathing difficulties

How is Treacher Collins Syndrome Diagnosed?

A diagnosis of Treacher Collins Syndrome will be made by taking a detailed history of the patient and conducting a thorough physical examination which will show the characteristic findings of the condition which will good enough for a diagnosis of Treacher Collins Syndrome.

Radiological studies in the form of x-rays or MRI and CT scans may also be done to look at the extent of abnormalities within the craniofacial areas such as the extent to which the jaw has developed and the abnormalities associated with the cheekbones, and if any abnormalities are present in the area of the brain and skull.

For confirmatory diagnosis, a genetic testing may be done which clearly show mutations in the genes TCOF1, POLR1C, and POLR1D genes which will confirm the diagnosis of Treacher Collins Syndrome.

How is Treacher Collins Syndrome Treated?

As of now, there is no cure for Treacher Collins Syndrome. The mainstay of treatment is only symptomatic and supportive. The treatment involves a multidisciplinary approach from a team of specialists to include pediatricians, is Ear, Nose, and Throat specialists, dentists, plastic surgery, speech pathologists, audiologists, ophthalmologists, and psychologists, who can sit together to analyze the abnormalities in the patient and formulate the best treatment plan for the patient.

Regular screenings for the patient will be mandatory in cases of Treacher Collins Syndrome to check for the status of ocular and ear abnormalities to check whether the patient is able to see and hear normally or not. The screenings will be done on a routine basis by ophthalmologist and audiologists.

These screenings start very early in life and are done every one year or so. The patient will also be monitored closely for jaw and dental abnormalities. If in case any abnormalities are found then appropriate treatment need to be given.

The child with Treacher Collins Syndrome will require special needs and a special education specialist will need to be involved to make the child work with speech and language therapy and make the child as independent as possible so that he or she is able to put his or her thoughts across.

Surgery is also an important aspect in treatment of children with Treacher Collins Syndrome. Due to severe abnormalities in the craniofacial region including an underdeveloped jaw, cheekbones, teeth, and other areas of the mouth reconstructive surgery will be required to correct the deformities.

Surgery will be required to correct deformities like cleft palate which is a common finding in children with Treacher Collins Syndrome. Additionally, the jaw, cheekbones, and some areas of the skull may need to be reconstructed through surgery to bring some sort of visible normalcy in the child with Treacher Collins Syndrome.

It should be noted that all of these surgeries are not performed at once but at different ages. The age at which a particular surgery is performed depends on the overall health and the severity of the deformity caused by Treacher Collins Syndrome.

Despite all the surgical procedures done to correct the deformities, the overall result may not be completely normal and some deformities may still remain in acute cases of Treacher Collins Syndrome.

Additionally, despite all treatments if a child still has vision disturbances due to ocular abnormalities as a result of Treacher Collins Syndrome then corrective lenses or glasses may be provided to help the patient see better. Similarly braces and dental implants may be given for the child for dental abnormalities as a result of Treacher Collins Syndrome.

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: November 1, 2017

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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