Treacher Collins syndrome (also known as "Treacher Collins–Franceschetti syndrome) is a rare genetic disorder characterized by craniofacial deformities.Treacher Collins syndrome is found in 1 in 10,000 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.
The signs of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected patients have underdeveloped facial bones, which result in a sunken appearance in the middle of the face, a prominent nose, and a very small jaw and chin (micrognathia). Some people with this condition are also born with a cleft palate. Malocclusion of teeth also is present. In severe cases, the micrognathia may displace the tongue of an affected neonate (new-born) sufficiently to cause obstruction of the oropharynx and potentially life-threatening respiratory problems, but it has been known that the epiglottis can be surgically removed to help in airway obstruction. The neonate will asphyxiate unless a proper airway is established. The condition is bilateral (occurring on both sides of the face) and the involvement is symmetrical. Congenital heart disease is an unusual feature.
People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called a coloboma. The coloboma is at the junction of lateral 1/3 and middle 1/3 of lower lid which is associated with other congenital abnormalities apart from Treacher Collins syndrome. People with Treacher Collins syndrome may also need a feeding tube because some cases are so severe that they cannot swallow. This condition is also characterized by absent, small, or unusually formed ears (pinnae), called microtia. Defects in the middle ear (which contains three small bones that transmit sound) cause hearing loss in about half of cases. People with Treacher Collins syndrome usually have normal intelligence.
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