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Treacher Collins Syndrome – Pictures, Symptoms, Causes, Treatment

Updated on December 11, 2013

Treacher Collins syndrome is a genetic disorder that is present from birth and is characterized by anomalous growth of the facial bones and tissues. It is passed on as an autosomal dominant pattern of inheritance.

Treacher Collins syndrome is a particularly rare disorder. The incidence rate is around 1 in every 50,000 individuals. The condition has a tendency to run in families and can be transferred down many generations.

Symptoms of Treacher Collins syndrome

The signs and symptoms associated with Treacher Collins syndrome may vary widely with regards to its severity levels. Some affected persons may experience minor deformities which are hardly noticeable, while others may elicit severe defects of the facial tissues and bones.

Some of the common signs and symptoms of Treacher Collins syndrome are listed below:

  • Most individuals affected by Treacher Collins syndrome elicit underdevelopment of the bones in the face. The cheek bones are especially underdeveloped or malformed.
    • A few affected individuals may experience a cleft palate, wherein a hole or an opening occurs on the roof of the mouth.Cleft palate can result in feeding problems leading to deficient nutrition, and eventually stunted growth and development. It can also increase the risk to developing infections of the middle ear, as well as other conditions.
    • The chin and jaw may be moderately smaller than normal.
    • The skull may have an irregular shape along with abnormal tapering of the bi-temporal area.
    • People with Treacher Collins syndrome may experience a variety of dental abnormalities such as defects of the tooth enamel, irregular arrangement of the teeth, and tooth agenesis.
    • The nose, mouth, throat, and the air passageways tend to be tiny in persons with Treacher Collins syndrome. This can result in breathing problems as well as feeding difficulties.
      • It is important for parents, guardians, and other caregivers of affected children to be on a constant lookout for any symptoms of respiratory problems.
      • Difficulties in feeding can lead to reduced intake of nutrition, thereby resulting in weight loss in affected infants
      • In some cases, doctors may recommend surgery to provide relief from breathing and feeding difficulties.
      • Extreme cases of Treacher Collins syndrome may cause severe respiratory problems and even death due to obstruction of the airways by the abnormally developed facial bones.
      • Children as well as adults with Treacher Collins syndrome do not experience any deficits in intelligence.
      • The eyes in people with Treacher Collins syndrome also exhibit peculiar and distinctive features.
        • Downward slanting eyes may be present
        • The eyelids are very few in number and quite thin
        • A dent referred to as coloboma may occur on the lower eyelids.
        • Some patients may experience other kinds of ocular defects that can result in disturbances in vision as well as blindness
        • People with Treacher Collins syndrome may experience morbid facial characteristics. This can result in reduced self-esteem and hamper the development of full and happy social, familial, and peer relationships. Early and complete access to all types of treatment methods as well as counseling can help affected individuals.
        • Ear problems:The ears may be small, malformed, or even absent. Defects of the middle ear can result in loss of hearing in nearly half of the affected persons.
          • Treacher Collins syndrome affected children with deficient hearing abilities may find it difficult to grasp the correct pronunciation of words. This may ultimately lead to delays or deficits in the development of speech and language. It may however be noted that individuals affected by Treacher Collins syndrome do not have to resort to the use of only sign language for effective communication. Physical therapy and speech therapy can help in alleviating ear anomalies and enhance the development of speech and language.
          • Both the ears can suffer from hearing loss. This however does not signify or mean complete deafness. It is also important to note that middle ear anomalies can lead to reduced capability in identifying noises and human voices at different pitch levels. Patients of Treacher Collins syndrome who experience hearing problems can improve it with the use of hearing aids.

Causes of Treacher Collins syndrome

Treacher Collins syndrome is caused due to mutations or presence of errors in a gene called TCOF1. This gene is responsible for passing on instructions which are vital to the production of a protein known as treacle. Doctors are not fully aware of the exact functionality of this protein. However, it is known that the protein plays a crucial role in the formation of facial bones in the fetus.

The mutations or alterations in the TCOF1 gene result in decreased production of the above mentioned protein, which in turn causes it to send abnormal signals to the fetal facial bones to inflict harm on itself. This ultimately causes the distinctive facial characteristics associated with Treacher Collins syndrome.

Treacher Collins syndrome passes down in families with an autosomal dominant inheritance pattern. It means that a single copy of the altered gene, passed on from either the father or the mother, is all that is needed for occurrence of Treacher Collins syndrome. The condition can be passed by any one of the affected parents, or the newborn may develop new genetic mutations.

Treatment of Treacher Collins syndrome

Currently, there are no known ways to cure genetic defects. This means that Treacher Collins syndrome cannot be cured. Treatment of the disorder focuses on controlling and correcting the varied abnormal symptoms as well as preventing the development of any complications.

The different treatment options for Treacher Collins syndrome are listed below:

  • Tube feeding can temporarily resolve feeding difficulties in affected infants as well as provide adequate nutrition
  • A tracheostomy may be required to correct severe abnormalities of the air passageways
  • Emotional and social disorders caused due to the presence of facial defects may require counseling by mental health professionals as well as emotional and psychological support from family and friends
  • Surgery can correct cleft palate and other physical anomalies caused by Treacher Collins syndrome
  • Loss of hearing can be alleviated with the use of hearing aids. They can also help improve speech, language, and communication skills in affected children.
  • Dental defects can be corrected via dental reconstruction.

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    • mbwalz profile image

      MaryBeth Walz 3 years ago from Maine

      Thanks for reporting on this syndrome. While this is somewhat more recognizable than other syndromes, by nature they are rarely studied, seen, or understood. I have a syndrome which took me 47 years to identify and now I try to educate everyone I can about it. Ours is mostly invisible but also untreatable.

      Information about syndromes is the key to understanding and recognizing and accepting them. And it would be nice to get some funding for these rare syndromes to be studied!

      Thank you for the info!

    • peachpurple profile image

      peachy 2 years ago from Home Sweet Home

      goodness! they are so pitiful. How will these kids get on with their lives? So pitiful

    • profile image

      al 2 years ago

      Hey..peachpurple..they get along the same way you do with your pathetic turd of a life..

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