Apert syndrome is complicated disorder created by premature closure or early fusion specialized joints between the bone plates of the skull, which grow and expand along with the normal brain development. Apert syndrome, is a type of acrocephalosyndactyly, which is a condition present from birth and features abnormal growth of the skull, hands, face, and feet. It is categorized as a branchial arch syndrome. Irregularities in the growth of the branchial arches in fetal development often result in widespread and lasting anomalies.
Children who suffer from the Apert syndrome disorder normally have hypoplasia affecting the middle part of the face, complex syndactyly of the feet and hands, and bicoronal synostosis.
In mid face hypoplasia, 2/3rds of the upper face portion experiences abnormal growth which results in the development of dental problems, such as uneven teeth or bite. It may also cause other disorders like sleep apnea, etc. Complex syndactyly of the feet and hands is a disorder which leads to the development of webbed or fused fingers and toes, generally due to fusion of the bones present at the tips. Bicoronal synostosis is a condition wherein the coronal sutures or the specialized bone plate joints of the skull are fused together, prematurely. It causes the head to have an irregular shape and which exerts greater pressure on the developing brain.
Apert syndrome affects the normal growth of children and the range of effect may differ among children.
The treatment of Apert syndrome needs a group of experts in craniofacial, surgical and medical fields
Apert Syndrome Symptoms
The children affected by Apert syndrome normally have craniofacial abnormalities and abnormalities in hands and limbs. The shape of skull would indicate the nature of the fusing of sutures. A computer enhanced CT scan, cross sectional view will throw more clarity.
The skull and the head:
- Apert syndrome affected children have abnormally shaped skull, appearing tall, short from front to back; and wide with a flattened forehead and brow. This happens due to premature fusion of specialized skull bone joints, which are called as coronal sutures, and which expand during brain growth.
- When the skull joints fuse prematurely, the brain growth drives the skull growth, wherever the skull joints open. Thus the shape of the skull is changed by the brain growth on a prematurely fused skull. In most cases, the upper portion of 2/3rds of the face gets flat shape, the middle part of the facial bones around the eyes up to the upper jaw appear sunken. Thus the deficiency in the upper jaw keeps the upper jaw bite behind lower jaw. The growth of teeth remain dissimilar and without uniformity.
Hands and feet:
- The feet and hands appear symmetric with varying levels of severe abnormalities. The fingers are webbed and the tips of the fingers fused together. The feet also have similar effects.
Causes of Apert Syndrome
Apert syndrome in children is a rare condition, which occurs in about one in every 45,000 to 160,000 child births. It is an autosomal dominant disorder, wherein only one parent with an abnormal gene is enough for the disease to pass onto the child
Normally the chances of passing the mutation from Apert syndrome affected parent to the child tend to be about 50 percent. There are many instances wherein random mutation may occur, wherein the parents are free from any mutation, but the child may develop the genetic mutation. This means the children are affected by Apert syndrome as a result of new defect in the fibroblast growth factor receptor 2 gene, found in chromosome 10
FGFR2 gene mutation also causes mutations of craniofacial malformations, such as Crouzon syndrome.
Some of the risk factors that increase the susceptibility to developing Apert syndrome are as follows:
- Apert syndrome, affects children without any gender bias.
- One among the major risk factors for Apert syndrome noticed is increased parental age.
Apert Syndrome Treatment
- If there are symptoms of pressure on brain, a craniofacial remodeling operation can be performed, when the child is between 9 to 11 months old. Under this procedure the skull is reshaped and room is made for the growth of the brain. The skull and the upper part of the orbits get normal shape and appearance.
- Later in the teen years the middle part of the face is repaired by performing Le Fort III osteotomy operation, after the growth of molar teeth, to place the upper jaw in correlation with the lower jaw. It is performed at an early stage to avoid problems of severe obstructive sleep apnea.
- Hand surgery is done early at the age of 6 months, because the thumb is critical for hand functioning. Multiple procedures are adopted to release all the fingers, preferably before attaining the age of two.
- The surgical treatment for feet is adopted only in severe cases where it can’t strike the ground flat or when unable to wear the shoes.
The craniofacial expert team in California possesses the complex surgical procedures experience for treating children with Apert syndrome. In past five years, the team has treated 16 children affected by Apert syndrome. Each year it receives at least two cases, and performs about 12 surgeries as an average.
Apert Syndrome life expectancy
The children who are able to survive Apert Syndrome and have no heart problems can lead a normal life. With better surgical technical and better medicine, things are looking uphill for patients.
Apert Syndrome pictures