Apert Syndrome
Apert syndrome is a disorder that is marked by abnormal growth of skull bones. It is a genetic disorder inherited by birth and the children with this syndrome will have markedly long head and distorted face. In addition to the abnormal skull such children would also have various other problems inherited by birth. Apert syndrome is caused by defective gene mutation and it cannot be cured.
Causes :
Defective gene mutation is the root cause of Apert syndrome. During the normal development of the fetus, the bones of the skull would eventually fuse together to give the right shape. But due to repeated gene mutation the skull bones would join together and close before reaching full development. This is can lead to intellectual disorders since the brain would have no chance for growing fully. However this is a rare disorder that occurs in one out of million births.
In many cases, the parents would be normal but carriers of defective genes but the child would get Apert syndrome due to spontaneous gene mutation. Often the FGFR2 gene present in the 10th chromosome undergoes repeated gene mutation causing this abnormal growth.
Symptoms :
The skull bones of the affected child would fuse before complete development leading to craniosynostosis. But the brain inside the skull would expand in the available space thereby exerting pressure on the skull and face. Prominent symptoms of Apert syndrome are abnormal growth of skull and face, high forehead, sunken face, bulging eyes and very low intellectual development. For some children it can also cause loss of hearing or chronic ear infections. The hands and feet of such children would be abnormally long with webbed hands (like a frog). In addition some children may also develop heart and urinary tract problems.
Diagnosis :
Mere physical examination of the newborn child is enough to detect Apert syndrome. In many cases, defective skull development can be diagnosed while routine scanning before delivery.
Treatment :
Apert syndrome is a birth defect causing distorted head and face and hence cannot be treated. Surgery can be done to prevent further damage. The surgeon would first cut open the skull and remove fusing of skull bones. Abnormally joined bones are separated and modified and the surgery carries absolute risk. Second surgery has to be done for repairing the facial bones.
The bones of jaw and cheeks are modified and brought forward to normal position. This surgery is performed during childhood. If needed, third surgery has to be done for further correction. Another surgery for repairing the abnormal bones of hands and feet need to be done. For children born with wide set eyes, corrective eye surgery is to be done.
Other method of treatment depends on development of symptoms. Some babies would have chronic dryness in their eyes for which eye drops should be applied for retaining moisture. Obstructive Sleep Apnea can be repaired by wearing a mask during night which is connected to a machine to clear the airway pressure. For preventing chronic ear infections, antibiotics are effective.
Images, Pics, Photos and Pictures of Apert Syndrome :
Prognosis :
If the corrective surgery is performed before one year, the child would probably gain normal intelligence. Even then, certain features of the brain may not develop fully. With the motivation of parents and environment, the child who underwent repair surgery can attain normal intelligence level. There are children who have completed their school education and joined college with Apert syndrome.
For children with lower IQ there is every chance to develop behavioral problem. Lifespan of children with Apert syndrome varies considerably. Without any further complication in the heart the child who has successfully done with repair surgery on brain can survive and lead a normal life.
Apert syndrome is a disorder that is marked by abnormal growth of skull bones. It is a genetic disorder inherited by birth and the children with this syndrome will have markedly long head and distorted face. In addition to the abnormal skull such children would also have various other problems inherited by birth. Apert syndrome is caused by defective gene mutation and it cannot be cured.
Causes :
Defective gene mutation is the root cause of Apert syndrome. During the normal development of the fetus, the bones of the skull would eventually fuse together to give the right shape. But due to repeated gene mutation the skull bones would join together and close before reaching full development. This is can lead to intellectual disorders since the brain would have no chance for growing fully. However this is a rare disorder that occurs in one out of million births.
In many cases, the parents would be normal but carriers of defective genes but the child would get Apert syndrome due to spontaneous gene mutation. Often the FGFR2 gene present in the 10th chromosome undergoes repeated gene mutation causing this abnormal growth.
Symptoms :
The skull bones of the affected child would fuse before complete development leading to craniosynostosis. But the brain inside the skull would expand in the available space thereby exerting pressure on the skull and face. Prominent symptoms of Apert syndrome are abnormal growth of skull and face, high forehead, sunken face, bulging eyes and very low intellectual development. For some children it can also cause loss of hearing or chronic ear infections. The hands and feet of such children would be abnormally long with webbed hands (like a frog). In addition some children may also develop heart and urinary tract problems.
Diagnosis :
Mere physical examination of the newborn child is enough to detect Apert syndrome. In many cases, defective skull development can be diagnosed while routine scanning before delivery.
Treatment :
Apert syndrome is a birth defect causing distorted head and face and hence cannot be treated. Surgery can be done to prevent further damage. The surgeon would first cut open the skull and remove fusing of skull bones. Abnormally joined bones are separated and modified and the surgery carries absolute risk. Second surgery has to be done for repairing the facial bones.
The bones of jaw and cheeks are modified and brought forward to normal position. This surgery is performed during childhood. If needed, third surgery has to be done for further correction. Another surgery for repairing the abnormal bones of hands and feet need to be done. For children born with wide set eyes, corrective eye surgery is to be done.
Other method of treatment depends on development of symptoms. Some babies would have chronic dryness in their eyes for which eye drops should be applied for retaining moisture. Obstructive Sleep Apnea can be repaired by wearing a mask during night which is connected to a machine to clear the airway pressure. For preventing chronic ear infections, antibiotics are effective.
Images, Pics, Photos and Pictures of Apert Syndrome :
Prognosis :
If the corrective surgery is performed before one year, the child would probably gain normal intelligence. Even then, certain features of the brain may not develop fully. With the motivation of parents and environment, the child who underwent repair surgery can attain normal intelligence level. There are children who have completed their school education and joined college with Apert syndrome.
For children with lower IQ there is every chance to develop behavioral problem. Lifespan of children with Apert syndrome varies considerably. Without any further complication in the heart the child who has successfully done with repair surgery on brain can survive and lead a normal life.
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