Treacher Collins Syndrome

By Dr. Anukriti Singh|3 - 4 mins read| June 04, 2024

What is Treacher Collins Syndrome?

Treacher Collins Syndrome is also known as mandibulofacial dystosis or Treacher Collins-Franceschetti Syndrome . It is caused by genetic mutations. Children show abnormal facial features. This is because Treacher Collins Syndrome affect how the bones of the face develop before the baby is born. It can lead to a lot of abnormal physical features but usually the life expectancy and intelligence of such children is normal.

What causes Treacher Collins Syndrome?

Treacher Collins Syndrome is caused due to mutations in the gene which control development of bones around the face. There are several genes which can be affected but in some children the actual mutation is not known.

The mutation can happen spontaneously and it is not necessary that the parents should be affected by the Treacher Collins Syndrome to pass it to the child. New mutation can happen just before fertilization by the sperm or immediately after it. Sometimes, the mutation can be passed from the parent to the child but that depends on which generally of the parents affected.

What are the signs and symptoms of Treacher Collins Syndrome ?

The signs and symptoms of Treacher Collins Syndrome can vary in severity. If very mild, they might even not be noticeable. Sometimes, the changes of Treacher Collins Syndrome can be very mild and not visible in a parent but when passed on to child, they may be severe and apparent.

Abnormal facial development due to the same mutation of gene can affect different people in different ways and lead to a varying severity of symptoms. Usually, the changes of the face in Treacher Collins Syndrome is symmetric which means that both sides of the face are equally affected. The changes of face which can be observed in the syndrome are:

  • Downward slant of the outer corners of the eyes can be seen.
  • There may drooping of upper eyelids and notches in the lower eyelids.
  • There is scare or almost nil lower lid eyelashe.
  • The child may have small cheekbones.
  • The number of teeth would be less. The teeth which are present may be crooked and have patchy coloring.
  • There is a small mandible or lower jaw.
  • A small jaw cause an overbite. This means that the chin and lower teeth sit back from the upper teeth.
  • The child can have cleft palate and cleft lip.
  • The child can have microtia or small and abnormal ears.
  • There can be atresia or small and missing ear openings.
  • The child can have hearing problems leading to hearing loss in some cases.

How is Treacher Collins Syndrome managed ?

Management of Treacher Collins Syndrome needs a group of multispecialists including neurosurgery, plastic surgery, otolaryngology, ophthalmology, genetics and maxillofacial surgery to name a few.

Managing the complications and minimising the effect of Treacher Collins Syndrome in day to day life while correcting the facial abnormalities is the basis of treatment. Management may begin at birth if the child has trouble breathing or feeding. This is done by inserting an airway tube, lying the child in specific positions which can aid breathing or inserting a nago gastric tube for feeding.

If such problems which affect the daily life of the child are not present in early childhood, correction of facial abnormalities may be done over the years when the child is older the child. The child will need regular hearing assessment for early detection and prevention of hearing loss. The child will also need regular visits to the ophthalmologist for early detection and prevention of vision loss and corneal complications.

What should I know as a parent?

  • Early detection and management of complications is necessary for treatment of Treacher Collins Syndrome.
  • You should support your child emotionally.
  • You can help them find an activity which they like and stick to it.
  • You can consider therapy for your child if they feel anxious about being in social situations.
  • You should consider genetic counselling to assess the risk of Treacher Collins Syndrome developing and future pregnancies.

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About The Author:

Dr. Anukriti Singh

Last Updated: Tue Jun 04 2024

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