What is Treacher Collins Syndrome?
Treacher Collins Syndrome is a condition affecting the head and face. Characteristics include:
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Down-slanting eyes
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Notched lower eyelids
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Underdevelopment or absence of cheekbones and the side wall and floor of the eye socket
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Lower jaw is often small and slanting
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Forward fair in the sideburn area
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Underdeveloped, malformed, and/or prominent ears
Most children with Treacher Collins have normal development and intelligence; however, it is important that there be early hearing tests. Most children with Treacher Collins Syndrome benefit from early intervention speech and language programs.
Causes of Treacher Collins Syndrome
Treacher Collins syndrome is a genetic condition. A genetic condition is caused by the presence of one or more genes that are either not working at all or not working as they should. Genes are the smallest units of hereditary information and may be thought of as a blueprint or "code" for everything that takes place in the body. 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. If the parents of the affected child are not affected by the syndrome, the chances of a sibling having Treacher Collins are minimal.
Kinds of Problems your Child Could Have
In addition to the physical characteristics common to Treacher Collins syndrome, your child may have some or all of the following problems:
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Breathing problems and/or eating difficulties.
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Most children have a 40% hearing loss in each ear due to abnormalities of the outer and middle ear, which conduct sound to the nerve endings.
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The eyes have a tendency to dry out, which can lead to infection.
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Some children have abnormally small or absent thumbs.
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Cleft palate often occurs with Treacher Collins Syndrome.
Treatment for 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 tube to assist them with breathing. A gastrostomy tube is used in the more severe cases to help the patient obtain adequate nutrition and energy for growth. Typically, these patients outgrow these problems and no longer need assistive devices. Due to the severe underdevelopment of their upper and lower jaws, these patients usually require both mandibular and maxillary surgery to correct these deficits. The mandible can be corrected either by applying a rib graft to the mandible or through a technique known as distraction osteogenesis. The technique which will provide the best result will be decided on a case by case basis by the craniofacial surgeon. With treatment of the jaws, it is necessary to obtain good orthodontic care to correct the malocclusion the deformity will produce. Nasal surgery may also be required to compensate for the deficient upper and lower jaws. In cases where colobomas exist, the children usually need eyelid reconstruction to restore the shape of the eye.