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Treacher Collins syndrome

Last revised by Dr Owen Kang on 07 Feb 2021

Treacher Collins syndrome, also known as mandibulofacial dysostosis, is an autosomal dominant genetic abnormality and results from bilateral malformations of first and second branchial arches (see branchial apparatus).

The incidence is estimated at approximately 1 in 50,000 live births, with 60% of cases being sporadic, and 40% having a family history of the condition 1

Patients have dysmorphic structures derived from the first and second pharyngeal pouch, groove, and arch. Conductive hearing defects are present.

The majority of cases (80-90%) are due to mutations of the TCOF1 gene, located on chromosome 5, which encodes a nucleolar phosphoprotein “Treacle” 1. Two other genes also are known to cause Treacher Collins syndrome: POLR1C and POLR1D 3

Treacher Collins syndrome was named after Edward Treacher Collins (1862-1932), an English ophthalmologist and surgeon who published two cases in 1900, describing many of the features 1,4. The condition is believed, however, to have been described first by Thompson in 1846 4. In 1949 Franceschetti and Klein published the first comprehensive review of the topic and introduced the term mandibulofacial dysostosis 1,4.

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Cases and figures

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  • Case 4
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