What is TCS? - A brief explanation   How does it happen?   Characteristics of TCS
      Web Links - List of many TCS pages on the web including personal pages, technical pages and support groups   Useful Contacts - Addresses, phone numbers of information sources and support groups   Synonyms
      A lesson in genetics   Fear of the Unknown - My own views and experiences   Recent updates to the pages, and what is still to come
      Utilities - Join mailing list, guestbook, email,  recommend site TCS Around the World Message board - Share ideas and views with others

      Email Home


      What is TCS?

      TCS is a rare genetic disorder affecting roughly 1 in every 10,000 births.

      It is characterised by craniofacial abnormalities. This basically means that certain portions of the skull are underdeveloped, and tends to involve the cheekbones, jaws, mouth, ears, and eyes. The symptoms and physical characteristics can vary greatly in severity, in fact it is possible to have it so slightly that you may not notice. More detail on the typical abnormalities can be found in the Characteristics section.

      The first case of Treacher Collins Syndrome was described in 1846, and was given it's name in 1900 when a British ophthalmologist, Dr Treacher Collins gave a definite diagnosis. The gene responsible for this syndrome has now been located and identified. It has been named the "Treacle" gene. You can read the articles about when the Chromosome was identified in 1991 and when the gene was identified in 1996:

      03Feb1996 USA: IRVINE - UCI Scientists Isolate Facial Disorder Gene.
      10Sep1991 UK: Medical scientists identify chromosome carrying gene for Treacher Collins Syndrome.

      A much more detailed description of the genetics and inheritance can be found in the genetics section.

      Top