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. It is a rare condition estimated to occur in 1 of 45,000 to 160,000 live births.
Most children with Apert syndrome have delayed developmental milestones, though this varies from child to child.
Causes & Risk Factors
Apert syndrome can be inherited, or it may occur without a known family history.
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 parent 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.
Symptoms & Types
Apert syndrome affects the craniofacial structures and the limbs. Children with Apert syndrome have bicoronal synostosis (both of the coronal sutures of the skull have fused together, causing an abnormal head shape and pressure on the growing brain), midface hypoplasia (the upper two-thirds of the face do not grow normally, causing an abnormal appearance, dental problems, sleep apnea), and complex syndactyly, or webbing, of the hands and feet).
Most children with Apert syndrome are of normal intelligence but mild learning difficulty occurs in some cases.
Physical characteristics of this syndrome include:
- tall skull and high prominent forehead
- underdeveloped upper jaw
- prominent eyes that appear to be bulging out and may be spaced widely apart
- small nose
- fused fingers
- fused toes
Diagnosis & Tests
Diagnosis starts with a detailed medical history and a physical exam. Apert syndrome requires highly specialized treatment by a team of craniofacial medical and surgical subspecialists.
Additional blood tests and imaging studies are conducted based on each individual child’s presentation.
Treatment & Care
Treatment depends on the individual patient and the severity of their symptoms.
All members of the craniofacial team may be involved in the care of children with Apert Syndrome at different times in the child's life.
Treatment often includes early surgery to correct the abnormal bone growth of the skull, mid-face and jaw. Some findings suggest that early neurosurgical intervention does not eliminate all risk for mental disability, some of which is thought to be related to subtle brain malformations. In the Texas Children’s Hospital Craniofacial Program, we take a multi-disciplinary approach to this condition. Our medical team typically includes:
- Pediatric neurosurgeons
- Pediatric craniofacial surgeons (plastic surgeons)
- Ear, nose and throat specialists
- Oral surgeons
- Speech pathologists
- Social worker