Treacher Collins syndrome

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 found in about one in 50,000 births. The typical physical features include downward-slanting eyes, micrognathia (a small lower jaw), conductive hearing loss, underdeveloped zygoma, drooping part of the lateral lower eyelids, and malformed or absent ears.

Signs and symptoms

The presentation of symptoms in people with Treacher Collins syndrome varies. Some individuals may be so mildly affected, they remain undiagnosed; others can have severe facial involvement and life-threatening airway compromise. Most of the features of TCS are bilateral and are already recognisable at birth.

Patients are mostly characterized by these abnormalities: