Treacher Collins Syndrome
Treacher Collins Syndrome is a genetic disorder characterized by hypoplasia of facial bones (mandible, maxilla and cheek bone), antimongoloid slant of palpebral fissures, coloboma of the lower lid, bilateral anomalies of the auricle and hearing loss. These congenital disorders represent a dysgenesis of the hard and soft tissues of the first and second branchial arches.
The autosomal dominant condition has a variable degree of phenotypic expression.
Although Thomson reported the first case in 1846, the syndrome has been associated with Treacher Collins, who described two cases in 1900.
We now know Treacher Collins syndrome is a ribosomopathy, caused by mutation in the TCOF1 gene.
OMIM:154500
ORPHA:861
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