Diseases

Treacher Collins Syndrome

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Treacher collins syndrome is a condition that affects the development of bones and other tissues of the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe.

SYMPTOMS

The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most individuals have:

underdeveloped facial bones,
particularly the cheek bones, and
a very small jaw and chin (micrognathia).
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.

CAUSES

Genes are passed from generation to generation. Genes occur in pairs, and everyone has thousands of different gene pairs. Treacher Collins syndrome is believed to be caused by a change in the gene on chromosome 5, which affects facial development. About 40% of the time, one parent has treacher collins syndrome.