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Apert Syndrome

What is Apert syndrome?

Apert syndrome is a complex condition caused by premature craniosynostosis, or early closing of one or more of the sutures (specialized joints between skull bones that expand during normal brain growth) that separate the bony plates of the skull.

Apert syndrome is a condition that affects the craniofacial structures and the limbs. A syndrome is a disease or disorder that has more than one identifying feature or symptom.

These children have bicoronal synostosis, midface hypoplasia and complex syndactyly of the hands and feet.

Bicoronal synostosis means that the coronal (skull) sutures have fused together, causing an abnormal head shape and potentially increased pressure on the growing brain.

Midface hypoplasia means that the upper two-thirds of the face do not grow normally, causing an abnormal appearance, dental problems (an abnormal bite) and other potential problems such as sleep apnea.

Complex syndactyly is a condition in which the fingers and toes are joined together, or webbed, because the bones in the tips of the digits are fused.

Most children with Apert syndrome have delayed developmental milestones, though this varies from child to child.

Apert syndrome requires highly specialized treatment by a team of craniofacial medical and surgical subspecialists.

How much experience do you have treating Apert syndrome?

Our craniofacial team has treated many children with Apert syndrome. We have extensive experience with all of the complex surgical procedures that these patients require.

All members of the team may be involved in the care of children with Apert Syndrome at different times in the child's life.

Right now we are treating 13 children with Apert syndrome. Each year we have at least one child come to our Center for treatment for the first time. Each year we perform an average of 12 surgeries for this condition.

Who gets Apert syndrome?

Apert syndrome is a very rare condition estimated to occur in one of 45,000 to 160,000 live births.

Apert syndrome is an autosomal dominant condition, meaning that only one parent needs to have an abnormal gene for the child to inherit the disease.

The children of a person with Apert syndrome have a 50% chance of passing this mutation on to their children.

In most cases, Apert syndrome arises from a sporadic or spontaneous mutation, meaning that the parents are unaffected and that the child is affected as a result of a new mutation or defect in the fibroblast growth factor receptor 2 (FGFR2) gene, which is on chromosome number 10.

Increased paternal age has been noted to be a risk factor for Apert syndrome. Males and females are equally affected.

The FGFR2 gene is linked with other craniofacial malformations such as Crouzon syndrome.

What does a baby with Apert syndrome look like?

These babies have abnormalities of the craniofacial region and the upper and lower limbs.

Head and Skull

Babies with Apert syndrome have an abnormally shaped skull that tends to be tall, short from front to back and wide with turribrachycephaly (retruded or flat forehead and brow).

These changes result from the premature fusion of the coronal sutures (specialized joints between skull bones that expand during normal brain growth).

When the sutures fuse prematurely, the growing brain drives the growth of the skull wherever the sutures remain open, changing the skull's shape.

The upper two-thirds of the face are retruded (flat) in babies with Apert syndrome.

In most cases, the midface (the area from the bones around the eyes down to the upper jaw) appears to be sunken or concave. Because of the deficiency in the upper jaw, there is also an underbite, with the upper jaw biting behind the lower jaw.

Also, these children tend to have an anterior open bite, meaning that their teeth don't come together in the front.

Hands and Feet

The hands and feet are symmetric in appearance with a range of effects varying in severity.

In general, the fingers are webbed, with bones in the tips of the index, middle and ring fingers fused together.

In more severe cases, the thumb is also fused to the fingers. The hands can look like flat paddles, mittens or spoons, depending on the type of syndactyly (fusion). The feet are similarly affected.

How is Apert syndrome treated?

Because Apert syndrome is a complex condition, the optimal treatment requires a coordinated approach by a team of specialists in various fields.

On average, these children will undergo about 20 operations (craniofacial and hand surgery combined) by the time they are out of their teens.

Head and Skull

Most times, the first major craniofacial operation is cranial vault remodeling and orbital rim advancement, done at 9 to 11 months of age. The procedure may be done sooner if there are signs of increased pressure on the brain.

In this procedure, the skull is reshaped to give the brain more room to grow and to normalize the appearance of the skull and the upper part of the orbits (the bony housing of the eyes).

Waiting until 9 to 11 months of age leaves the bone still malleable enough to be reshaped while being solid enough to hold its new shape.

A craniofacial surgeon works together with a neurosurgeon to do this operation.

Later in childhood or during the teen years, the midface must be advanced, or brought forward, in an operation called a LeFort III osteotomy. If possible, this is done after the development of the molar teeth so that these teeth are not damaged.

Ideally, the procedure is performed when the growth of the face is almost complete to minimize the likelihood that the surgery will need to be repeated.

However, the procedure may need to be performed earlier to address problems such as severe obstructive sleep apnea that results from the retruded position of the midface and irritation of the eyes from inadequate bony coverage.

Further craniofacial procedures are usually required, such as a LeFort I osteotomy to position the upper teeth in the correct relationship to the lower teeth. The upper jaw is moved forward to correct the underbite and anterior open bite.

In most cases, this is done once the body is done growing.

Hands and Feet

Hand surgery procedures begin in the first year of life.

If the thumbs are fused, they must be released early on (about 6 months of age), because the thumb is critical for hand function and development.

Multiple procedures are required for the release of the fingers on each hand. Ideally, all digits are separated by about 2 years of age.

The feet require surgical treatment only in the most severe cases, when the fusion of the toes forces the foot into an abnormal position such that it cannot strike the ground flat or fit easily into shoes.