Apert Syndrome

Apert Syndrome is an abnormal condition which elicits many different unique characteristics and symptoms. The anomalies associated with Apert syndrome occur because of early union or premature closure of specific joints connecting the skull bones that develop during normal growth of the brain and which divide the skeletal plates. Due to this craniofacial malformation, other body parts are also affected. A child with Apert syndrome also suffers from midface hypoplasia, bicoronal synostosis, and complex syndactyly of the arms and legs.

In midface hypoplasia the growth of the top portion of the face, around 2/3rd of it, is anomalous resulting in an unusual look, teeth problems and other illness like sleep apnea. In case of bicoronal synostosis the coronal stitches of the skull are observed to be merged together, giving an unusual shape to the head as well as substantial increased pressure on the growth of the brain. Complex syndactyly is a state wherein the fingers and toes are attached together as the bones at the tip get fused together.

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Treatment of Apert syndrome requires the attention of a special team of surgical and craniofacial medical experts.

Symptoms of Apert syndrome

Some of the symptoms of Apert syndrome are as follows:

  • Babies suffering from this abnormality have anomalous skull and upper and lower member/limb defects
  • Also, a patient may elicit an unusual shape of the skull; it can be small, elongated, or abnormally wide along with a flat forehead and brow.
  • The arms and legs are balanced and in symmetry. However, they may show a series of defects that vary in severity. The fingers may be joined together, with the bones in the tips of the middle, index, and ring fingers merged together. In very severe cases, the thumb may also get fused to the fingers. The hands can look like flat paddles, depending on the type of fusion. The legs also are affected in the same way.

Causes

Apert syndrome occurs rarely; an estimation shows that it can occur in 1 child out of every 45,000 to 160,000 live births.

Mutations or changes in the fibroblast growth factor receptor 2 or FGFR2 gene, which is on chromosome number 10, can result in Apert syndrome. Such errors in the gene can occur at random due to no apparent cause. Hence, parents who are carriers of the abnormal gene may not necessarily pass on the defective gene to the child. It may however be noted that even if only one parent has the genetic mutation associated with Apert syndrome, then there is a fifty percent risk of passing it on to the child.

Increase in paternal age is also considered as a probable risk factor for the development of this disorder. Both men and women are equally vulnerable to Apert syndrome. Transformations in the FGFR2 gene can also result in other skull defects like Crouzon syndrome.

Diagnosis

A doctor will have to fully check the infant’s skull for clear diagnosis of Apert syndrome. The shape of the skull will assist in determining whether stitches have merged. A CT scan proves to be helpful in knowing the condition and structure of the skull. It also helps in getting more intricate and additional details.

X-rays of the child’s arms, spine, hands, legs, and feet, can also assist to verify the analysis. Medical experts may also suggest genetic tests that help in the determination of presence of genetic defects and other erroneous changes in genes, which eventually resulted in Apert syndrome.

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Treatment of Apert syndrome

Apert syndrome requires special treatment by a team of surgical and craniofacial medical subspecialists. Treatment includes:

  • From the 1st year of life the procedure for hand surgery begins. If the thumbs are merged, then they ought to be released at the earliest, as the thumb is necessary for functioning and development of hand. Various methods are needed and used to free the fingers on each hand. If possible, all digits are divided by about 2 years of age. The feet need surgical treatments in the most severe cases only; for example when it becomes difficult to walk flat, or fit into shoes due to merging of toes, or abnormal positioning of the feet.
  • Mostly, the 1st main skull operation is orbital rim advancement and cranial vault remodeling, done at 9 to 11 months of age. In these methods, the skull is restructured to give the brain more space to develop and regularize the look of the skull and upper part of the orbits. A skull surgeon works along with a neurosurgeon to perform this operation.
  • In the later periods, the middle portion of the face must be brought forward through an operation called as ‘LeFort III osteotomy.’ This is usually done when the face has grown almost completely, so as to reduce the chances of another facial reconstruction surgery. However, the methods may require to be carried out earlier to tackle problems like severe obstructive sleep apnea which is due to retruded positioning of the midface.
  • Skull procedures, like LeFort I osteotomy, are mostly needed to place the upper teeth in the right position with regards to the lower teeth. The upper jaw is moved forward to correct anterior open bite and the underbite. Generally, this method is carried out after the body has fully grown.

 Apert Syndrome Pictures

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