Treacher Collins syndrome
From SNPedia
Treacher Collins syndrome (TCS) is a rare genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. The degree a person is affected, however, may vary from mild to severe. Complications may include breathing problems, problems seeing, cleft palate, and hearing loss. Those affected generally have a normal intelligence.Wikipedia
There are three recognized forms of TCS:
- Treacher Collins syndrome type 1: based on TCOF1 gene mutations, inherited in an autosomal dominant manner
- Treacher Collins syndrome type 2: based on POLR1D mutations, also inherited in an autosomal dominant manner
- Treacher Collins syndrome type 3: based on POLR1C mutations, inherited recessively
Many TCS mutations are de novo mutations, meaning they arise anew and are not inherited from either parent.
The book, 'Wonder', by author R.J. Palacio, tells the story of the fictional 10-year-old with Treacher Collins syndrome, type 1. It was made into a movie of the same name, released in 2017.
