What is Apert Syndrome ?
In This Article
The condition of Apert syndrome arises due to a genetic disorder which leads to the premature fusion of cranial bones in the skull. Due to the premature fusion, the growth, shape and size of the cranium get affected. The condition also leads to the fusion of fingers and toe also known as syndactyly.
The person suffering from apert syndrome suffers from abnormal facial and cranial feature. In some patients suffering from the condition, the face appears to be swollen from the middle and the eyes bulges out. The nose appears to be beaked, and the poor development of jaws leads to the growth of crowded teethes. The patients sometimes suffer from various dental problems. The genetic disorder also leads to shallow eye sockets which affect the vision. Apart from the facial characters, the genetic disorder also affects the development of the brain and intellectual level.
The people with Apert syndrome develop webbed fingers and toes. However, the degree of premature fusion of toes and fingers depends on the severity of the disease. In some of the most critical cases, the person suffering from a genetic disorder develops the fusion of all the toes and fingers. Or the disorder may lead to the formation of extra finger or toe called polydactyly. The condition of Apert syndrome affects one in 65,000 newborns.
Causes of Apert syndrome
The condition of Apert syndrome arises due to genetic mutation on a single gene. The condition is quite rare, but it leads to the fusion of bones in premature condition. The mutation arises in FGFR2 gene in newborns leading to the disorder. Due to a mutation on FGFR2 gene, the cells stimulate the formation of protein fibroblast growth factor receptor 2 which signals the immature cells to speed up the formation of bone during the embryonic development. The protein prolongs the signal that promotes the fusion of bones with joints leading to Apert syndrome. The fusion of bones can occur in cranium, spinal cord, hand, feet and jaws.
Symptoms of Apert syndrome
In the new born babies, the condition of Apert syndrome causes the premature fusion of bones in cranium and skull which is also known as craniosynostosis. With the development, the brain continues the growth inside the deformed skull which puts immense pressure on face and eyes. The main symptoms of a genetic disorder are characterized below:
- Presence of long head and forehead
- Bulging eye with poorly closing eyelids.
- Poor vision due to swollen eye socket.
- Middle face appears to be sunken.
- Poor or under average intellectual development
- Sleep deprivation in most of the cases.
- Frequent sinus infection in infants with Apert syndrome.
- Loss of hearing also accompanies the condition.
- Formation of webbed fingers and toes
- Poor development of upper jaws
- Dental problems caused by fusion of teeth sockets.
- Presence of extra finger or fusion of fingers.
- The infant suffering from apert syndrome also suffers from heart, gastrointestinal and urinary problems.
- Delayed development and short height.
Chances of occurrence of Apert syndrome
The condition of Apert syndrome arises due to a genetic disorder. The chances of the having a child with apert syndrome is 50% if any one parent suffers from the condition. However, if the parents are free from the disorder, the syndrome will not occur in their offspring. In some cases, it has been seen that the syndrome arises if there is family history of Apert syndrome.
Problems caused by Apert syndrome
As discussed above, the condition of Apert syndrome causes the poor development of the physical character that leads to several problems. However, the syndrome also causes following problems in children suffering from the condition.
- 30 % of children suffering from the apert syndrome also develop cleft palate.
- 50 % of the children with apert syndrome develop poor learning abilities. However as the child grows, the development of brain normalizes.
- Due to swollen eye socket the child suffering from apert syndrome develops poor vision and pressure on eye muscles
- The syndrome causes the repetitive occurrence of ear and sinus infections.
- The small nose in children with Apert syndrome causes breathing difficulty and noisy respiration.
- The skin of children affected with Apert syndrome always remains sticky due to the hyperactive sweat glands.
- The children with Apert syndrome often experience pain in bones and joints.
Treatment of Apert syndrome
The condition of Apert syndrome does not have any cure. However, the surgical treatment and bone remodeling can help in the correction of abnormal bone joints and fusions. The surgical treatments are mostly related with the correction of the mid face and skull abnormalities. Following are the surgical options available for the correction of abnormalities caused by Apert syndrome.
- Skull surgery – In most of the cases, the children suffering from apert syndrome requires 2-4 skull surgeries to remove the abnormalities over lifetime. The first corrective surgery is recommended when the infant is 18 months old.
- Middle Face Surgery – The corrective operation of the mid face in apert syndrome is called LeFort III operation. This surgical operation is recommended when the affected child is 6-8 years old. This surgery is done to correct severe obstructive sleep apnea condition.
- Fingers and toe separation – This surgery is related with the separation of fused fingers and toes. The operation is done when the child is 9-12 months of age.
Life expectancy of apert syndrome
The life expectancy of a patient suffering from apert syndrome follows the normal course. However, the severe cases of apert syndrome might be life threatening but it can be corrected with proper surgical treatment.
Picture 3 – No fusion of craniofacial bones