Apert Syndrome: Treatment, Prognosis, Life Expectancy, Causes, Symptoms, Epidemiology

A genetic disorder associated with craniofacial anomalies or limb anomalies, the Apert syndrome is one of the rarest and most dreaded diseases that occur in children. Occurring approximately in 1 child in every 200,000 live births, Apert syndrome is characterized by specific physical malformations. The Apert syndrome is a congenital disorder that is a form of acrocephalosyndactyly. The term “acrocephalosyndactyly” refers to the peaked head shape that is common in every patient suffering from Apert syndrome. However, the nomenclature of the disease is attributed to a French physician named Eugene Apert, who first described the disease in the year 1906.

Apert syndrome is the disease in which the abnormal development of the skull occurs due to a genetic disorder. Apert syndrome is a birth defect in which the babies are born with distorted face and head, along with webbed toes and fingers. It is a complex condition that is caused by early closure or premature fusion of the skull bones.

Distortion in the head or skull and in the face, along with the other body parts is the common sign and symptom of Apert syndrome. The children born with Apert syndrome are seen to have bicoronal synostosis, complex syndactyly of the hands and feet and mid-face hypoplasia. To discuss these in more details, the symptoms of Apert syndrome can be classified as:

Craniosynostosis: This is a phenomenon in which the forehead grows high and prominent along with a skull that has a flat posterior. The mid facial bones are underdeveloped and as a result, a concave or flat face is developed. It also includes broadly spaced eyes with a bony, yet shallow orbit and low set ears. The bicoronal synostosis refers to a condition in which both of the coronal structures in a skull, fuse together. This leads to the abnormal growth of the skull that ultimately has a pressure on the growing brain.

Syndactyly: This phenomenon associates limb anomalies. This includes a short thumb, webbed long, index and ring finger.

Apart from these, the other common symptoms include:

• Hearing loss
• Poor intellectual development in some cases
• Repeated sinus infections and infection in the ear
• Sleep apnea
• Reduction in the size of nasopharynx

There are also some less common symptoms and they include:

• Oily skin with severe acne
• Fusion of spinal bones in neck
• Unusually heavy sweating
• An opening in the roof of the mouth

There have been different reports and estimates of the occurrence of Apert syndrome. Initially it was reported to be only 1 case in every 200,000 live births. According to the California Birth Defects Monitoring Program that was conducted in 1997, a rate of 1 in 80,645 out of almost 2.5 million live births is reported to have Apert syndrome. However, in a recent study by the Craniofacial Centre, North Texas Hospital for Children, the frequency rate has been seen to have increased up to 1 in 65,000 live births. This accounts for 4.5% cases being recognised as Apert syndrome, in all cases of Craniosynostosis. The risk factor of Apert syndrome increases with the Asians, making it 22.3 cases per million live births, whereas the Hispanics have the lowest rate of 7.6 cases per million live births.

Although in some of the cases, Apert syndrome affects the normal IQ level, studies have shown that about 4 in every 10 children suffering from Apert syndrome, who have had proper treatments, have received a normal IQ level. In another study, 136 children with Apert Syndrome were found to be attending college.

The cause of Apert syndrome is the mutation of the single FGFR2 gene. It is this gene that is responsible for producing and guiding a protein namely the fibroblast growth factor receptor 2 to give signals to the immature cells to take the place of the bone cells. This is done in the embryonic stage and hence, the disease seems to occur right from the time of conception. As a result, the bones join together at random and promote the premature fusion of skull bones, as well as hands and feet.

The symptoms of the disease are quite prominent and help the doctors to diagnose the medical condition. The doctors usually examine the skull of the child properly to determine from its shape, if any sutures of the skull have fused or not. Genetic testing can identify this disease or syndrome.

Along with the physical tests, skull X ray or CT scan is also done to check the cause of the development or formation of the abnormal skull.

There is no treatment procedures known that will completely cure and treat Apert syndrome. However, as the children gradually grow up, they undergo almost about 20 operations that are well-coordinated by a team of specialist doctors in various medical fields. The surgeries are done in specific time gaps, giving the child the time to cope with the surgery as well as to be healed from its pains. The surgeries are the only way through which, most of the abnormal connections between the bone structure of the skull and the face are treated. Gradually the webbed hands and feet are also treated through surgeries.

1. Treating Apert Syndrome with Craniosynostosis Release:

   The first step of treatment of this disease is to separate the skull bones that are abnormally fused with one another. Once the separation process is complete, surgeons partially rearrange some of the bones in a manner that the skull gets its normal form, as much as possible to be done manually. Usually the skull formation surgery or Craniosynostosis release is done at the early age of the child, when he is between 6 to 8 months old, as the bones are softer and easier to rearrange at this time.

2. Treating Apert Syndrome with Mid-Face Advancement:

   In this process, the face is given a normal shape by cutting the bones of the jaw and cheeks. The surgeon brings them forward to give them a normal position. It is done in an advanced age, any time within the age of 4 and 12 years.

3. Treating Apert Syndrome with Hypertelorism Correction:

   In this process, the wedge of bones between the two eyes is removed and the eye sockets are brought closer to each other.

As the surgeries to treat Apert Syndrome are extremely intensive, a proper and thorough care must be given to the children during these processes. It helps them to avoid the possible further infection that they are prone to grow.

• As Obstructive Sleep Apnea is a common phenomenon associated with children suffering from Apert Syndrome, during their sleep, a mask is often used that maintains the pressure to keep the airways open.
• Antibiotics are given to Apert Syndrome children to help them avoid sinus and ear infections, as they are prone to grow this repeatedly.
• Eye drying is also a recurrent problem associated with Apert Syndrome and hence, continuous eye drops must be given to them to make sure that they do not suffer from eye drying. However, at night time, eye lubricating ointments should also be given.

With the above mentioned treatment procedures followed, the children with Apert syndrome can get a far better life and the facial structure can be improved to a great extent. Even their physical limitations could be overcome. The earlier the treatments are done the better the recovery would be and thus the child can lead a better fulfilling life.

Life expectancy in children with Apert syndrome is usually normal; however, there can be premature death due to the complications or health problems associated with this syndrome.