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Apert Syndrome: Causes, Symptoms and Treatment

By James S Pendergraft

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Published: 26Feb2012
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Apert syndrome is one of those genetic problems that can affect the entire body. With this health problem, the joints between the bones of the skull do not develop normally and this affects the face and head.

Causes of Apert Syndrome

Apert syndrome is an inherited health problem. Since this syndrome is of autosomal dominant nature, it can be passed on to children by one parent only. The gene of this disease is passed on by the parent even if he/she does not have any symptoms of this disease. In some cases, this syndrome may also appear without any family history of the disease, but these are rare cases.

The reason for this disease is a gene that is known as fibroblast receptor 2. This gene is responsible for growth and affects the bone structure of the body, especially the skull. This condition is known as craniosynostosis in medical terms.

Symptoms of Apert Syndrome

If you have frequent infection of any one or both of your ears, there is a chance you have Apert syndrome. Some patients also observe severe or fusion webbing in their second, third and fourth fingers when they have this disease. This condition is known as mitten hands. Hearing loss and slow intellectual growth are also observed in several patients. Bulging or prominent eyes are some other common symptoms for Apert syndrome. Patients may also be short due to this disease. Limb abnormalities are also symptoms of Apert syndrome. In case you observe late or large closing of the oft spot on your baby's skull, he/she might be suffering from this disease. Webbing can also be seen in the toes.

In case you find any of the above symptoms, it would be wise to consult your doctor immediately. This would help you in the immediate treatment of the disease. Since there are some other symptoms that might sound like Apert syndrome, you should keep a close check on your health. Apert syndrome is one of the rarest health disorders that occurs due to a gene disorder.

Treatment of Apert Syndrome

The detection of Apert syndrome in a patient's body can be performed through certain tests. The doctor may perform various x-rays of the hand, skull and legs. In some cases, hearing tests may also be performed. A genetic test may confirm Apert syndrome very easily.

The initial treatment of Apert syndrome includes surgery for abnormal growth of the bones. This surgery is performed to correct the shape and size of the abnormal bones so that the patient may look and feel like any other normal person. If the patient has hearing loss, he/she may go through surgery as suggested by a doctor. The patient may also use a hearing aid to correct hearing capacity.

Patients suffering from Apert syndrome need family support and counseling. Since this disease may make them look abnormal and 'not so beautiful,' it is important to keep the patient under counseling during the entire course treatment. Some patients may even require counseling after completion of the treatment.

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