Chromosomal and Genetic Conditions

Apert Syndrome

What Is Apert Syndrome?

Apert syndrome is a complex condition caused by premature fusion, or early closure, of one or more of the sutures (specialized joints between skull bones that expand during normal brain growth) that separate the bony plates of the skull.

Apert syndrome is a condition that affects the craniofacial structures and the limbs. A syndrome is a disease or disorder that has more than one identifying feature or symptom.

Children with Apert syndrome have bicoronal synostosis, midface hypoplasia and complex syndactyly of the hands and feet.

Bicoronal synostosis means that both of the coronal sutures of the skull have fused together, causing an abnormal head shape and potentially increased pressure on the growing brain.

Midface hypoplasia means that the upper two-thirds of the face do not grow normally, causing an abnormal appearance, dental problems (an abnormal bite) and maybe other problems such as sleep apnea.

Complex syndactyly is a condition in which the fingers and toes are joined together, or webbed, because the bones in the tips of the digits are fused.

Most children with Apert syndrome have delayed developmental milestones, though this varies from child to child.

Apert syndrome requires highly specialized treatment by a team of craniofacial medical and surgical subspecialists.

Apert Syndrome in Children

Apert syndrome is a very rare condition estimated to occur in one of 45,000 to 160,000 live births.

Apert syndrome is an autosomal dominant condition, meaning that only one parent needs to have an abnormal gene for the child to inherit the disease.

The children of a person with Apert syndrome have a 50% chance of passing this mutation on to their children.

In most cases, Apert syndrome arises from a sporadic or spontaneous mutation, meaning that the parents are unaffected and that the child is affected as a result of a new mutation or defect in the fibroblast growth factor receptor 2 (FGFR2) gene, which is on chromosome number 10.

Increased paternal age has been noted to be a risk factor for Apert syndrome. Males and females are equally affected.

Mutations in the FGFR2 gene also cause other craniofacial malformations such as Crouzon syndrome.

Apert Syndrome at Seattle Children's

Our craniofacial team has treated many children with Apert syndrome. We have extensive experience with all of the complex surgical procedures that these patients require.

All members of the team may be involved in the care of children with Apert Syndrome at different times in the child's life.

Over the past five years, we have treated 16 children with Apert syndrome. Each year we have at least two children come to our Center for treatment for the first time. Each year we perform an average of 12 surgeries for this condition.