Treacher Collins syndrome (TCS), also known as Treacher-Collins–Franceschetti syndrome, or mandibulofacial dysostosis

Treacher Collins syndrome (TCS), also known as Treacher-Collins–Franceschetti syndrome, or mandibulofacial dysostosis is a rare autosomal dominant congenital disorder characterized by craniofacial deformities, such as absent cheekbones.

Treacher-Collins syndrome is caused by a defective protein called treacle.

The condition is passed down through families (inherited). More than half of all cases are thought to be due to new gene changes (mutations) because there is no family history of the disease.

This condition may vary in severity from generation to generation and from person to person.

Treacher-Collins syndrome is found in about 1 in 10,000 births.

The symptoms include:

      · Hypoplasia of the facial bones.

     · Ear anomalies. The external ear anomalies consist of small, rotated or even absent ears.

· Most patients experience eye problems, varying from colobomata of the lower eyelids and aplasiaof lid lashes to short, downslanting palpebral fissures and missing eyelashes.

· Very small jaw (micrognathia).

· A rather large mouth

· Chippy

· Hearing impairment

· Hair scalp that extends to the cheek

· Clefts in the face

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