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Apert Syndrome

Overview

Apert syndrome is a condition that is characterized by deformity of the various parts of the body like face, skull, feet and hands. From the condition, equal percentage of the males and females get affected. Approximately, 1 per160000 to 200000 live births get affected from the condition. It is not wrong to say that apert syndrome is a genetic defect and can be classified under limb/craniofacial anomalies. An important fact necessary to disclose is that it is a rare disease that affects less than 20000 U.S. people.


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Causes

Till now, no one common cause is considered as the main cause of the condition. Normally, it is said and believed that Apert syndrome occurs when during pregnancy early mutation of the genes take place. If both parents are not affected by the disease, then chances are nil that an offspring can get affected from the condition. However, if one parent is affected from apert syndrome, then chances are as high as 50% that child can get affect from the condition.


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Signs & Symptoms

Some of the common symptoms of the condition include:

  • Eyes- tilting of the eyelids abnormally at the sides, bulging, etc.
  • Face- projection of lower teeth in front of the upper teeth, sunken appearance of the mid-face, etc
  • Skull- skull may become overly tall, wide from the sides, etc
  • Hands and Feet- infusion and/or webbing of toe bones, finger bones, joints of toes and fingers, etc.

Less common symptoms of the condition include knock-knee, limited joint mobility, gastrointestinal anomalies, etc.

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Prevention

No prevention exists for the condition.  


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Treatments
Surgery Modern Medicine

Surgery is considered as ideal treatment to prevent the chances of damaging brain development. Facial deformities can be treated with the help of orthognathic and orthodontic surgery. For treating deformities of toes and fingers, aggressive surgery is recommended by health experts.

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