Treacher Collins Syndrome

Treacher Collins Syndrome (TCS) is a condition that effects development of bones and other tissues of the face. The degree to which a person is affected, however, may vary. Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases underdevelopment of the facial bones may restrict an affected infant’s airway, causing potentially life-threatening respiratory problems.

Complications may include breathing problems, problems seeing, cleft palate, and hearing loss, those affected generally have a normal intelligence.

Treacher Collins Syndrome is not curable symptoms may me managed with reconstructive surgery, hearing aids, speech therapy and other assistive devices. The signs and symptoms vary greatly, ranging from almost unnoticeable to severe. Defects in the middle ear cause hearing loss in about half of affected people.

Treacher Collins syndrome is caused by changes (mutations) in any of several genes. Trecher Collins Syndrome is believed to be caused by a change in the gene on chromosome 5, which affects facial development.

These genes appear to play and important role in early development of the bones and other tissues of the face. About 40% of the time on parent has Treacher Collins Syndrome.
Treacher Collins patients generally require extensive care in the first few years of life. They may require the placement of a tracheostomy to be to assist them with breathing. A gastrostomy tube is used in the more severe cases to help the patient obtain adequate nutrients and energy for growth. Due to the severe underdevelopment of their upper and lower jaws, these patients usually require both mandibular and maxillary surgery to correct these deficits.

Most people affected also experience eye problems, including Coloboma. Vision loss can occur and is associated with strabismus. Less common feature of Treacher Collins syndrome may add to and affected persons breathing problems, including sleep apenea. The psychological and social problems associated with face deformity can affect quality of life for people with Treacher Collins syndrome.

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