Apert Syndrome

Apert syndrome is a genetic disorder. Babies with it abnormally develop their skulls. They are born with a distorted shape of the face and head. Many of those children also have other defects. There is no cure for this syndrome, but doctors can perform certain surgeries that can correct some of the problems.
This syndrome happens as the result of mutation of just one gene. This gene is responsible for guiding bones in their development. They should join at the right time during baby’s development. Mutated gene cannot do this properly. Apert syndrome is very rare. It hits one in 65.000 babies. Also, mutation of this gene is random.
Apert syndrome makes bones join together too soon. This process is called craniosynostosis. The brain continues to grow inside the skull, but it is putting the pressure on the face and skull bones. The symptoms of Apert syndrome are:
•    A long head with high forehead.
•    A sunken face in the middle.
•    Bulging eyes.
•    Some children have poor intellectual development.
•    Loss of hearing.
•    Sinus or ear infections (repeated).
•    Obstructive sleep apnea.
Syndactyly (abnormal joining of the feet or hand bones) can also be the symptom of Apert syndrome. Some children with this syndrome have urinary, heart or gastrointestinal problems.
Doctors usually suspect in this syndrome when they see a baby. The appearance is usually the first reason to think like this. But they often perform genetic testing in order to identify this syndrome. Surgeries that can solve some of the Apert syndrome problems are performed when a child is between 6 and 8 months old. The surgery consists of three steps. This is the only treatment for Apert syndrome.

 

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