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.
Prenatal screening and diagnostic tests may also be performed to determine a family history of apert syndrome. However, there are serious risks associated with prenatal testing, including miscarriage. You should consult your doctor for the potential health risks and benefits when planning to become pregnant.
Babies with Apert syndrome have an atypically shaped head and face. Their head may be:
Other symptoms can include:
Apert syndrome can be detected at birth through the appearance of the infant, though genetic testing is required to rule out other causes of abnormal skull development.
Doctors can sometimes diagnose Apert syndrome while a baby is still in the womb by one of these methods:
The doctor can confirm that the baby has Apert syndrome after birth using gene tests or these imaging tests:
Babies with Apert syndrome may need to see many different specialists. Their medical team can include:
Some babies may need surgery in the first few months of life. This may include surgery to:
Children with developmental delays may need extra help to keep up in school. They may also need help with daily activities.
Even though apert syndrome technically does not affect the child’s behaviors or emotions, the child still needs a lot of help and support to cope with their condition. Thanks to the development of surgical techniques, children with apert syndrome now have longer life expectancy. With proper medical care, they can still enjoy a normal life.
If you have any questions, please consult with your doctor to better understand the best solution for you.