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
An autosomal dominant disorder
Rare incomplete penetrance
Forty percentage of cases have a previous family history.
Sixty percentage of cases possibly arise from de novo mutations of TCOF1.
The Treacher Collins-Franceschetti syndrome 1 ( TCOF1) gene
The only gene currently known to be associated with TCS
Mapped to chromosome 5q32-q33.1
Encoding a serine/alanine–rich protein, called “treacle” (Jones et al. 1999)
A complete coding sequence of...
KeywordsPreimplantation Genetic Diagnosis External Auditory Canal Palpebral Fissure Limb Defect Goldenhar Syndrome
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