Apert Syndrome: What is Apert Syndrome?

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Apert syndrome is a rare, genetic condition in which the joints in a newborn baby’s skull close too early. This is called craniosynostosis.

Typically, the fibrous joints in a newborn’s skull stay open after birth to let the baby’s brain grow. When these joints close too early and the brain keeps growing, it pushes the baby’s head and face into a distorted shape. Pressure can also build inside the baby’s skull.

Most babies with Apert syndrome have connected fingers and toes (syndactyly). The fingers and toes can be webbed or fused at the bone.

Apert syndrome is rare. It affects only 1 out of every 65,000 to 88,000 babies.

Symptoms of Apert syndrome

Babies with Apert syndrome have an atypically shaped head and face. Their head may be:

• pointed at the top
• longer than usual
• narrow from front to back
• wide from side to side
• flattened in the back
• pushed out at the forehead

Other symptoms can include:

• bulging, wide-set eyes
• crossed eyes
• beaked nose
• sunken-in face
• flat nose
• small upper jaw
• underbite
• crowded, uneven teeth
• webbed or fused index, middle, and ring fingers or toes
• extra fingers or toes
• short, wide fingers or toes
• stiff joints in the fingers
• heavy sweating (hyperhidrosis)
• severe acne
• missing patches of hair in the eyebrows
• opening in the roof of the mouth (cleft palate)
• noisy breathing

Causes of Apert syndrome

Apert syndrome is caused by a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. This gene provides the instructions to make a protein that signals bone cells to form while the baby is in the womb.

A mutation in the FGFR2 gene leads to an increase in the signals that promote bone formation. This causes bones to form and fuse too early in the baby’s skull.

About 95 percent of the time, the mutation happens randomly while the baby is developing in the womb. Less often, babies can inherit the genetic change from a parent. A parent who has Apert syndrome has a 50 percent chance of passing the condition on to a biological child.

Treatment options

Doctors can sometimes diagnose Apert syndrome while a baby is still in the womb by one of these methods:

• Fetoscopy. The doctor places a flexible scope into the mother’s uterus through her belly. This scope can be used to look at the baby and to remove blood and tissue samples.
• Ultrasound. This test uses sound waves to take a picture of the baby in the womb.

The doctor can confirm that the baby has Apert syndrome after birth using gene tests or these imaging tests:

• Computerized tomography (CT). This test takes a series of X-rays from different angles to create detailed images of the baby’s body.
• Magnetic resonance imaging (MRI). This test uses powerful magnets and radio waves to make pictures from inside the baby’s body.

Babies with Apert syndrome may need to see many different specialists. Their medical team can include:

• a pediatrician
• a surgeon
• an orthopedist (a doctor who treats bone, muscle, and joint problems)
• an ENT (a doctor who treats problems with the ears, nose, and throat)
• a cardiologist (a doctor who treats problems with the heart)
• a hearing specialist

Some babies may need surgery in the first few months of life. This may include surgery to:

• relieve pressure or drain fluid buildup (hydrocephalus) inside the skull
• open up the bones of the skull and give the baby’s brain room to grow
• reshape the baby’s face to create a more rounded, even appearance
• move the jaw and face bones to improve appearance and help with breathing
• release webbed fingers and sometimes toes
• remove teeth if they are too crowded

Children with developmental delays may need extra help to keep up in school. They may also need help with daily activities.

Complications

Apert syndrome can cause complications such as:

• vision problems
• hearing loss
• difficulty breathing
• slower learning
• short stature

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