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Apert Syndrome at North Austin Campus

Conditions

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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.

Patients can be seen in North Austin by Texas Children's experts in  Plastic Surgery, Neurosurgery, Orthodontics, and Pediatric Dentistry.

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 bilateral coronal 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.

Our medical team includes:

  • Pediatric craniofacial surgeon (plastic surgeon with fellowship training in craniofacial surgery)
  • Pediatric neurosurgeon
  • Ear, nose and throat specialist
  • Pediatric ICU specialists
  • Difficult airway team 
  • Ophthalmologist
  • Craniofacial orthodontist (fellowship trained in craniofacial care)
  • Pediatric hand surgeon

Surgeries your child with Apert syndrome may require include the treatment of Craniosynostosis and procedures we specialize in for the treatment of Complex Craniofacial Syndromes. Our team introduced the Lefort 2 distraction with simultaneous zygomatic repositioning LF2ZR. No other center has more experience in this powerful technique to rebalance the proportions of the midface and improve breathing. Patients with Apert syndrome also have congenital hand anomalies, such as complex syndactyly that our pediatric hand surgery specialist will treat. 

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