What is Apert Syndrome ?
Apert Syndrome, first recognized by the French physician, Eugene Apert in 1906, is a genetic disorder which causes abnormal shaping of the head and face of a baby. The reason behind the distorted shape of the face is that some of the skull bones fused together prematurely, which prevented the head from growing normally. A child born with Apert syndrome also generally has fingers or toes which are joined together or has extra fingers and toes. Sometimes, the early fusing of skull bones may also affect the brain’s development and therefore affect intellectual growth too.
Causes of Apert Syndrome :
Although the exact cause of the syndrome has not been determined by researchers, it has been said with some certainty that it is the defect or rather a genetic mutation in the FGFR2 gene on Chromosome 10 which causes Apert Syndrome. This genetic mutation can occur entirely on its own, but if one of the parents is already affected by Apert Syndrome, chances are very high that it will be passed on to the child. It can be inherited from either mother or father and the chances of inheriting it increases as the age of parents increase at the time of pregnancy.
Although most symptoms of Apert Syndrome can be seen in physical appearance, in some cases it might affect intellectual growth too.
- Middle portion of the face is sunken due to pressure from skull bones.
- Eyes are abnormally wide-set and may be bulging.
- Has a high and abnormally long forehead.
- Webbed or fused toes or fingers.
- Short height.
- Hearing loss or frequent ear infections.
- Unusually heavy sweating and extreme case of acne on face.
- Extra fingers or toes.
A child with Apert Syndrome can be easily recognized because of the strange distorted shape of his head and face. The middle portion of the face is sunken while the eyes would be bulging out. Webbed or mitten-like toes or fingers are a big indicator of Apert Syndrome. Apart from problems in hearing and ear related diseases, some people also suffer from frequent infections in stomach and urinary bladder. Chances of a heart disease are also quite high in a person with Apert Syndrome.
The physical appearance of a person is generally more than sufficient to say that he is suffering from Apert Syndrome. However, some x-ray tests of the skull, hands and feet should be done to confirm the diagnosis. Since ears are the only sensory organs affected by it, a hearing test must absolutely be done. A genetic test on a blood sample can also be performed to confirm the presence of the defective gene which caused the syndrome.
Generally, immediately after the birth of a baby, doctors can perceive the presence of Apert Syndrome in the baby because of its abnormal features. He may ask the parents for their medical history since more often than not, Apert Syndrome is inherited from one of the parents. Even before the baby is taken home from the hospital, the doctor will do a series of x rays as well as genetic tests on the baby to confirm the diagnosis of Apert Syndrome.
The defects in the gene cannot be repaired but the distorted shape of skull and face can be put right with the help of surgery. Since babies are diagnosed with Apert Syndrome immediately after birth, it is best to get the surgery done at as young age as possible since that increases the chances of success. As far as intellectual growth is concerned, it might be a little delayed initially, but with a normal healthy home environment, most kids with Apert Syndrome reach the same level of IQ as their contemporaries. Some children may also require extra emotional and social support to cope with their problems and it falls on their family and friends to provide it.
Since this is a genetic disorder inherited from parents, the only way to prevent it is to consult an experienced doctor before planning a pregnancy if either you or your spouse has been diagnosed with Apert Syndrome. Even if there is a family history of this syndrome, pregnancy should be planned very carefully. Genetic tests can also be performed on the baby while it is still inside the womb to determine the presence of the defective gene which causes Apert Syndrome.
Apert Syndrome can basically occur in two forms:
- Craniosynostosis – Occurring when the premature fusion of skull bones result is deformed shape of head and face including features like bulging eyes, high forehead and sunken middle face.
- Syndactyly – The main features include fusing of fingers and toes resulting in mitten-like hands. The fusion can be of two, three, four or five fingers or toes depending on the severity of the syndrome.
The severity of Apert Syndrome differs from person to person. Those who are severely affected will have highly distorted head and face shapes which may result in severe dental problems and may also affect the functioning of other parts of the face. People with webbed feet or hands often face problems in walking or carrying out even the simplest of tasks due to their inability to use some or all of their fingers. Ear related infections, low-hearing and subsequent loss of hearing are also problems which haunt a person with Apert Syndrome all through his life.
Home Remedies :
A child diagnosed with Apert Syndrome often suffers from delayed development in physical and mental capabilities. At this point of time, he needs a loving and caring home environment where he can develop at his own pace. Sending such a child to an institution has never been the recommended course. They also require a lot of emotional and social support as they may realize that they look different from other children of their age and without support from their family, they may end up having a much traumatized childhood.
The only known treatment for Apert Syndrome is through surgery which will take away the affects which the abnormal fusion of skull bones has had on his facial features. The surgery takes place in 3 steps:
- The abnormally fused skull bones are separated and then rearranged in the right way as much as is possible. This is done when the child is 6 months to 12 months of age.
- The jaws and cheeks are cut so as to rearrange the facial bones to bring them forward to their normal position. This is done when child is between 4 to 12 years of age.
- The wide-set eyes are corrected by removing a wedged in bone between them and bringing eye sockets closer together.
Similarly, the webbed fingers or toes may also be treated by releasing the inter-digital spaces starting from the index finger to the little finger in varying stages.
Other safety measures for Apert Syndrome :
Children with Apert Syndrome also suffer from extreme drying of the eye which can be countered by normal eye-drops during the day and eye ointment at night. Also, since such kids are at a high risk from ear infections, they can be put on a regular dosage of appropriate antibiotics to help them fight off such infections.