Apert syndrome

Apert syndrome is a rare genetic disorder that is present at birth. People with Apert syndrome may have distinctive malformations (differences) of their:

• skull (head)
• face
• hands
• feet

It's estimated that Apert syndrome affects around 1 in every 65,000 newborn babies. The number of people with Apert syndrome are equally split between males and females.

People with Apert syndrome have craniosynostosis. This is a condition where the sutures (gaps) between bones of the skull close early.

The pressure of the brain growing can cause the bones of the skull and face to change shape. This can cause:

• a pointy head
• a high, broad forehead
• a sunken face with wide-set and bulging eyes
• a cleft palate and other abnormalities of the mouth and teeth

People with Apert syndrome may also have webbed (fused) fingers or toes. The bones of the second to the fourth fingers are fused (joined) together and there is one single, wide nail.

People with Apert syndrome may also have hydrocephalus, a build-up of cerebrospinal fluid in the brain.

Apert syndrome can also cause other problems, such as:

• a slower rate of growth, leading to short stature
• vision impairment — as the eyes aren't protected by the skull
• repeated glue ear and hearing problems
• developmental delay

Affected people may also have an intellectual disability. The severity of this disability may depend on:

• the age when skull surgery happens
• the presence of other brain issues

The severity of symptoms varies between people.

Apert syndrome is caused by a mutation (change) to the fibroblast growth factor receptor 2 (FGFR2) gene. This affects how certain cells grow, divide and die.

The gene mutation can be inherited from a parent. But in most cases the mutation happens by chance.

Apert syndrome may be linked to having an older father.

Apert syndrome is usually diagnosed at or soon after birth, based on your baby's facial features and other characteristics.

If you think they might have the condition, you should see your doctor or paediatrician (children's doctor).

As children with Apert syndrome have a characteristic appearance, no specific tests are needed for a diagnosis.

Sometimes the diagnosis may be confirmed by genetic testing.

Your child may also have imaging tests done, such as:

• x-rays
• CT-scan
• MRI scan

These tests help find other differences in their body.

Is Apert syndrome ever diagnosed during pregnancy?

Sometimes, Apert syndrome is diagnosed during pregnancy. Signs can show up in an ultrasound (Opens in new tab) scan or MRI scan. These scans can show differences in:

• skull shape
• facial features
• finger and toe bones

However, most prenatal tests (Opens in new tab) do not screen for Apert syndrome.

The treatment for Apert syndrome will depend on your child's symptoms.

Usually, treatment involves a team of health professionals, such as a:

• neurosurgeon (brain surgeon)
• orthopaedic specialist (doctor who treats bone, joint and muscle problems)
• ENT specialist (doctor who specialises in ear, nose and throat problems)
• cardiologist (heart doctor)

Coordinated management is important to ensure that your child gets treatment at the appropriate stages.

Surgery

Children with Apert syndrome typically need to have many surgical procedures as they grow. These include surgery to:

• enlarge the skull to allow the brain to grow
• separate fused fingers and sometimes toes
• prevent blockages in the respiratory system
• properly align the eyes, nose and jaw

More surgeries may be needed as the bones continue to grow.

Early intervention

Early intervention (Opens in new tab) may help children with Apert syndrome reach their full potential. This may include support from a:

• speech therapist
• occupational therapist
• physiotherapist

The life expectancy of children born with Apert syndrome depends on the severity of their symptoms.

Children with Apert syndrome require long-term monitoring, particularly during periods of growth.

Most children will benefit from educational support, due to intellectual disability.

Your child may also need support for day-to-day living, although some independence is possible.

Apert syndrome is a genetic disease, so it can't be prevented.

If you're a parent or carer of a child with Apert syndrome, you need to ensure you take care of yourself. Caring for others can be demanding, as well as rewarding.

Your doctor may recommend genetic counselling (Opens in new tab). A genetic counsellor can help explain the causes of Apert syndrome. They can also discuss your chances of having other children with Apert syndrome.

Your doctor can also help you get emotional support for the entire family.

Visit Genetic Alliance Australia (Opens in new tab) for more information and support about Apert syndrome.

The Carer Gateway (Opens in new tab) website has information on emotional and practical support for carers.

You can also call the healthdirect helpline on 1800 022 222 (known as NURSE-ON-CALL in Victoria). A registered nurse is available to speak with 24 hours a day, 7 days a week.