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.


Last modified
9 May 2020




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General Medical Guideline
The diagnosis Treacher Collins syndrome can be established on clinical grounds. When possible with confirmation by direct sequencing of the coding and flanking intronic regions...
In addition to the antimongoloid slanting palpebral fissures in Treacher Collins Syndrome (TCS) the soft tissues surrounding the eye are typically hypoplastic with thin lower...
Mandible Hypoplasia is a common feature of Treacher Collins Syndrome (TCS). The mandible is malformed and the angle can be underdeveloped or totally absent. The...
Hypoplasia of the facial bones may be the first indicator of Treacher Collins Syndrome (TCS). The cheek (malar or zygomatic) bone is smaller or absent...
Treacher Collins Syndrome has a variable degree of expression. Often Treacher Collins Syndrome is due to a so called new mutation. To distinguish familial occurence...
Auricular abnormalities found included microtia, preauricular appendages, ear lobe and external auditory canal agenesis, anotia, malformed ossicular chains, malformed ossicles and reduced oval window. In...
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