Treacher Collins Syndrome

Treacher Collins syndrome, also called mandibulofacial dysostosis or Franceschetti-Zwalen-Klein syndrome, is a congenital defect in which the bones of the face, jaw, and skull are malformed. The signs vary widely but usually include underdeveloped cheekbones resulting in downward-slanting eyes, a very small jaw, sometimes a cleft palate, and usually small or nonexistent ears.

Treacher Collins syndrome is easily recognized at birth and can usually be diagnosed prenatally by ultrasound.

The effects of this condition can include obstructed airways, vision loss, and hearing impairment. Cognitive abilities and intelligence are not affected.

Facial structures — and especially airway constrictions — can be corrected surgically after birth. Other impairments may be helped with assistive devices.

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