What are the signs 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 Treacher Collins syndrome caused by?
Mutations in the TCOF1, POLR1C, or POLR1D gene can cause Treacher Collins syndrome. TCOF1 gene mutations are the most common cause of the disorder, accounting for 81 to 93 percent of all cases. POLR1C and POLR1D gene mutations cause an additional 2 percent of cases.
What is the life expectancy with 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.
Can people with Treacher Collins syndrome have children?
If one parent has Treacher Collins syndrome, there is a 50 percent chance that his child will be born with the disorder.
Who was the first person to get 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. Therefore, the condition gets its name from him.
Who had the first Treacher Collins syndrome?
Is Treacher Collins syndrome more common in males or females?
Treacher Collins syndrome is a rare congenital condition that occurs in 1 of 10,000 newborn babies in a 1:1 male to female ratio.
Who has Treacher Collins syndrome?
TCS occurs in about one in 50,000 births in Europe. Worldwide, it is estimated to occur in one in 10,000 to one in 50,000 births.
Should people with Crouzon syndrome have children?
With advanced planning and appropriate testing, it may be possible to prevent having a child with Crouzon syndrome. During a pregnancy: If the genetic change (mutation) in an affected family member has been identified, prenatal genetic testing may be possible during pregnancy.
