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What are the symptoms of Treacher Collins syndrome?


What are the symptoms of Treacher Collins syndrome?

Symptoms of Treacher Collins Syndrome

  • A very small lower jaw and chin (micrognathia)
  • A very small upper jaw (maxillary hypoplasia)
  • Undersized cheekbones.
  • Ears that are very small (microtia), unusually formed or missing.
  • Eyes that slant downward.
  • A notch in their lower eyelids (coloboma)

What is the life expectancy for Treacher Collins syndrome?

Usually, people with Treacher Collins syndrome grow to become functioning adults with normal intelligence. With proper management, life expectancy is approximately the same as in the general population. In some cases, the prognosis depends on the specific symptoms and severity in the affected person.

How common is Treacher Collins syndrome in the world?

TCS occurs in about one in 50,000 people. The syndrome is named after Edward Treacher Collins, an English surgeon and ophthalmologist, who described its essential traits in 1900.

Who had the first Treacher Collins syndrome?

Thomson was the first to refer to this syndrome in 1846. In 1900, Dr E Treacher Collins, a British ophthalmologist, described two children who had very small cheek bones and notches in their lower eyelids.

What causes Treacher Collins syndrome?

The main cause of Treacher Collins Syndrome is mutation in genes TCOF1, POLR1C or POLR1D genes.

Is there a cure for Treacher Collins syndrome?

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,…

How is Treacher Collins syndrome detected?

Treacher Collins Diagnosis. The condition is initially diagnosed by a physical examination of the structural deformities. Physicians usually look for common signs like abnormal eye shape, facial clefts, flat cheekbones, small jaw and abnormal ear canal.

Is Treacher Collins syndrome a mutation?

The Treacher Collins Syndrome is often caused by a mutation in TCOF1 gene , which accounts for 81 to 93% of the cases, but can also be as a result of POLRIC or POLRID mutations, which account for 2% of all cases.