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Treacher Collins Syndrome

Treacher Collins Syndrome
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Treacher Collins Syndrome

A certain disorder comes in several characteristics and features that needs to be treated dependent on those factors. This illness is mostly destructive in very young children.


What is Treacher Collins Syndrome?

The term Treacher Collins Syndrome (TCS) commonly called Mandibulofacial dysostosis, a genetic defect that affects several characteristics features of a baby that includes undersized cheeks, chin, jaw bones, down shanting eyes and missing ears. A certain disorder that influence the growth of bones and other tissues in the face.

Study shows that a loss of protein signal cells in our body is very important for the development of facial bones to self-destruct. This may lead to severe a problem that is related to the facial development. Aside from that, there is a fifty (50) percent chance of getting this disorder through hereditary factors which means that it is passed down through families that result from new mutations and development of genes.

In addition, it named after Edward Treacher Collins, an English surgeon that describes the essential traits of this particular condition and a more common name as Franceschetti-Zwahlen-Klein syndrome wherein the affected person have sad looking faces due to the dropping appearance of the lower lids which is caused by the lack of bony support around the lower portion of the orbit.

Approximately, only 40% of the mutations are inherited and both men and women are affected by this condition. Listed below are five (5) categories of TCT that describes and helps you identify some gene changes that appears to people who are suffering from this situation that differentiate the diseases from one another namely:

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  • O; orbital asymmetry
  • M; mandibular hypoplasia
  • E; auricular deformity
  • N; nerve development and
  • S; soft-tissue disease

Generally, this kind of syndrome is separated into three (3) major problems based on the severity of this certain condition that occurs approximately one (1) out of ten thousand (10,000) births that includes:

  • Poor and insufficient tissue in the lower eyelids as well as on the cheeks
  • Too little bonny support to the eye sockets, cheek
  • Small lower jaw with an abnormal relationship to the teeth

Treacher Collins Syndrome Pictures

"Treacher Collins Syndrome images"

Picture 1 : Treacher Collins Syndrome Photo

 

"Treacher Collins Syndrome pictures"

Picture 2 : Treacher Collins Syndrome Pic

 

"Treacher Collins Syndrome pics"

Picture 3 : Treacher Collins Syndrome photo

 

"Treacher Collins Syndrome photos"

Picture 4 : Picture of a girl having Treacher Collins Syndrome

 

"Treacher Collins Syndrome"

Picture 5 : Treacher Collins Syndrome image

Symptoms

Every patient suffering from this condition may experience dissimilar sign that may vary depending on the underlying condition of a person that has a TCS disorder and may range from hardly noticeable to severe.

Symptoms and signs of a TCS syndrome include the following:

  • Severe facial involvement
  • Constricted in breathing
  • Hypoplasia – underdeveloped mandibular and zygomatic bone on the face
  • Cleft palate
  • Vision and hearing loss
  • Ear anomalies
  • Nasal deformity
  • Difficulty in breathing
  • Slant downward eyes
  • Flat cheekbones
  • Sparse eyelashes very small

An individual suffering from this condition should seek medical professional when he/ she has experienced the following:

  • Communication problems
  • Difficulty in Feeding
  • Difficulty in speaking
  • Vision problems

Causes

Majority of the patients suffering this disorder is inherited in an autosomal-dominant pattern which means that

The common causes of TCS syndrome are as follows:

  • Defective protein called Treacle
  • Genetic mutation

Depending on the severity of the Treacher Collins, the following factors your child is having these disorders due to its facial deformities:

  • Correction of the cleft palette
  • Helpful hearing aid
  • Repair of the sidewall and floor of the eye socket
  • Repair of the cheekbones
  • Repair of the eyelid notches
  • Correction of the undeveloped jaw and chin
  • Surgery to correct the beak-like nose
  • Reconstruction of the ears

Treatment

Management of this syndrome is extensive and requires a multidisciplinary approach focused on treatment of this illness. As an inherited condition, Treacher Collins syndrome can’t be ‘cured’. Additional procedures may be necessary as the child grows and reaches adolescence

Here are few treatments/ remedies you may undergo that include:

Plastic Surgery

  • It may correct and improves other structures of the face of the affected person.

Note: After surgery, it is important to continue monitor the person’s development over a long period of time. It involves physical examinations and periodic CT scans to ensure that there are no signs of any problems.

Speech Therapy

  • A treatment focus on assisting and supporting the affected person in communicating and speaking to other at the most level as possible. It helps in increasing the person’s functions and accessibility.

Guidelines

There are a variety of clinical guidelines for the treatment of TCS disorder. Specifically, listed below are the following recommendations/ guidelines you may consider depending on the person and the severity of the deformity.

Person’s suffering cleft palate

  • It normally takes place at the age of nine (9) to twelve (12) months. Before surgery, and needs to perform a polysomnography a kind of with a palatal plate in place
  • This may predict the postoperative situation and gives insight after the operation.

Person’s having hearing loss

  • Is typically treated by bone-anchored hearing aid (Baha) – an alternative devices used for individuals with ear anomalies

Reconstruction of malar region

  • Typically located in the zygomatic cranio-orbitozygomatic bone is developed
  • Usually observable at the age of five (5) to seven (7) years of age in children
  • Combination of the procedure such as transplantation, lipofilling, and etc. will get optimal result for the repair procedure

External Ear Reconstruction

  • It is usually done when the affected person is at least eight (8) years of age and treated the external ear due to this certain procedure

Orthognathic (Jaw) Surgery – (facial skeletal maturity)

  • Takes place after the age of sixteen (16) years of age and is determined through endoscopy of the upper airways

Mandibular lengthening with destruction osteogenesis

  • An effective way to improve both breathing and æsthetics

These particular guidelines are classified separately into three (3) classifications:

  • Type I (mild) and Type II-A (moderate) – ranging from 13–16 of ages
  • Type II-B can be seen moderately to severe malformation of the face and other parts of the body of the person suffering from this sickness and also it can be seen in the maturity of the bones and skeletal systems of the body
  • Type III (severe) – ranging from six (6) to ten (10) years of age

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