Apert syndrome

What is Apert syndrome?

Apert syndrome is a rare genetic disorder that affects around 1 in every 65,000 newborn babies. Usually neither parent has the condition, and the gene mutation has come about by chance.

The mutation, usually evident at birth, causes the bones of the skull to fuse together much earlier than usual, before the brain is fully grown. Pressure from the brain as it grows pushes the bones of the head and face out of shape. This brain compression can affect a child’s intellectual development.

Apert syndrome also affects the hands and feet and a range of internal body organs.

Surgery and other treatments can increase the chance of a child with Apert syndrome developing normally.

What are the features of Apert syndrome?

People with Apert syndrome typically have:

• a distinctive pointed head and high, broad forehead
• a sunken face with wide-set and bulging eyes
• fused (or webbed) fingers and toes, often with a single wide nail

Other problems can include:

• vision impairment
• repeated glue ear and hearing problems
• a cleft palate and other abnormalities of the mouth and teeth
• sleep apnoea and breathing difficulties
• mild to moderate learning disability

How is Apert syndrome diagnosed?

Sometimes, Apert syndrome is diagnosed during pregnancy. Symptoms can show up in an ultrasound from around 22 weeks. However, regular pre-natal tests do not screen for Apert syndrome.

Apert syndrome is usually diagnosed at or soon after birth, based on facial and other characteristics. Diagnosis can be confirmed by genetic testing.

How is Apert syndrome treated?

If your baby has Apert syndrome, you’ll need the support of a large team of health professionals. Coordinated management is important to ensure that your child gets treatment at the appropriate stages.

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

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

In addition to surgeons who specialise in the head, face and skull (cranio-facial surgeons), treatment is likely to involve specialists in the brain and nerves, heart, teeth, hearing, speech development, mental wellbeing and bones, muscles and joints.

Children who are treated at a specialised multidisciplinary centre usually develop the most successfully. A comprehensive treatment program increases the chance of a child with Apert syndrome growing up to have normal vision, hearing and speech. This will help them to achieve normal intellectual development, and succeed in education, work and social relationships.

Health problems can reduce life expectancy in children with severe Apert syndrome. But with good treatment to minimise risks, many people with Apert syndrome live a normal life span.

When should you seek help?

If your baby is diagnosed with Apert syndrome, or you think they might have the condition, you should see your doctor or paediatrician.

Living with Apert syndrome

Day-to-day care of a child with Apert syndrome can also include using:

• eyedrops to prevent drying
• antibiotics to protect against recurrent ear infections
• a continuous positive air-way pressure (CPAP) machine to prevent sleep apnoea

If you’re a parent or carer of a child with Apert syndrome, you’ll also need to ensure you take care of yourself. Caring for others can be demanding, as well as rewarding. The Carer Gateway website has information about stress, about support that might be available to you and much more.

More information

Visit Genetic Alliance Australia for more information and support.