Treacher-Collins Syndrome

Reference work entry

Treacher-Collins syndrome (TCS), also called Treacher Collins-Franceschetti syndrome or mandibulofacial dysostosis, is an autosomal dominant disorder affecting the development of structures derived from the first and second branchial arches during early embryonic development (Poswillo 1975). The incidence is estimated to be 1 in 50,000 live births.

Synonyms and Related Disorders

Mandibulofacial dysostosis; Treacher Collins-Franceschetti syndrome

Genetics/Basic Defects

  1. 1.
    1. a.
      An autosomal dominant disorder
      1. i.

        Rare incomplete penetrance

      2. ii.

        Wide variability

    2. b.

      Forty percentage of cases have a previous family history.

    3. c.

      Sixty percentage of cases possibly arise from de novo mutations of TCOF1.

  2. 2.
    The Treacher Collins-Franceschetti syndrome 1 ( TCOF1) gene
    1. a.

      The only gene currently known to be associated with TCS

    2. b.

      Mapped to chromosome 5q32-q33.1

    3. c.

      Encoding a serine/alanine–rich protein, called “treacle” (Jones et al. 1999)

    4. d.

      A complete coding sequence of...


Preimplantation Genetic Diagnosis External Auditory Canal Palpebral Fissure Limb Defect Goldenhar Syndrome 
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