Chromosomal and Genetic Conditions

Apert Syndrome Symptoms and Diagnosis

Symptoms of Apert Syndrome

Babies with Apert syndrome 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.

Apert Syndrome Diagnosis

To diagnose this condition, your doctor will examine your child's skull carefully. The shape will help the doctor tell whether any sutures have fused.

Computed tomography (CT) imaging can give the doctor more information. A CT scan is an X-ray procedure that takes a computer-enhanced cross-sectional view of the body.

Your child's facial features will help the doctor determine whether they have Apert syndrome or another condition.

Your child may need X-rays of their spine, arms, hands, legs, and feet, to confirm the diagnosis.

Your doctor may also recommend genetic tests that show whether your child has a mutation that causes Apert syndrome.