Apert Syndrome

Gillette Children’s Specialty Healthcare is among the region’s leaders for diagnosing and treating babies and children who have Apert syndrome. Our experts in craniofacial and plastic surgery treat deformities affecting the skull and facial bones. They collaborate with other Gillette specialists to improve our patients’ health and physical appearance.

Why Choose Gillette?

  • Gillette offers the region’s top pediatric specialists in craniofacial and plastic surgery.
  • Our innovative team is pioneering the latest craniofacial treatments and technologies, which reduce recovery time and improve results.
  • Our state-of-the-art technology and facilities are designed specifically for your needs.
  • We believe that people who have disabilities deserve a lifetime of excellent health care—from birth through adulthood.

Definition

Apert syndrome is a genetic disorder caused by a mutation on a single gene. This genetic mutation can lead to abnormal development of the skull, affecting the shape of the head and face. It can also cause other birth defects, such as fused fingers and toes.


Apert Syndrome Symptoms and Effects

The symptoms and effects of Apert syndrome differ from person to person, but some of the most common include:

  • Early fusion of skull bones, known as craniosynostosis
  • Cleft palate
  • Frequent ear and sinus infections
  • Hearing loss
  • Fusion or webbing of the fingers and toes
  • Large or late-closing soft spot on a baby’s skull
  • Possible delays in intellectual development (varies among patients)
  • Prominent or bulging eyes
  • Underdevelopment of the mid-face
  • Obstructive sleep apnea
  • Other skeletal abnormalities, such as fusion of cervical vertebrae
  • Short height
  • Possible heart, gastrointestinal or urinary conditions

Apert Syndrome Incidence, Causes and Risk Factors

Apert syndrome is a somewhat rare condition caused by a random mutation on a single gene. This gene produces a protein called fibroblast growth factor receptor 2 (FGFR2). FGFR2 signals immature cells to become bone cells during embryonic development. A mutation in a portion of the FGFR2 gene alters the protein, causing prolonged signaling and sometimes leading to premature fusion of bones in the skull, hands and feet. 

Apert syndrome, which occurs in about one of every 65,000 to 160,000 births, affects males and females in equal numbers. Most people who have Apert syndrome have no history of the condition in their family. Only one parent needs to carry the abnormal gene for it to be passed to a child. Some research suggests that increased paternal age may be a risk factor for the syndrome.


Apert Syndrome Diagnosis and Treatment

Apert syndrome can usually be diagnosed at birth because of the appearance of the infant’s skull. Genetic testing often confirms whether a child has Apert syndrome or another condition.

There is no cure for Apert syndrome, but surgery is often a successful treatment for symptoms related to the condition.

Typically, facial surgery for the treatment of Apert syndrome takes place in three parts:

  • Cranial vault remodeling surgery:  performed at 6 to 8 months of age to separate abnormally fused skull bones, allowing space for the brain to develop.
  • Midface advancement surgery: performed between 4 and 12 years to correct misalignment of facial bones and to move the jaw and cheeks into a better position.
  • Wide-set eyes (hypertelorism) correction:  performed between 5 and 8 years to bring the eyes closer together.

Surgery to repair fused fingers or toes might also be needed.


Apert Syndrome Services

The treatment of Apert syndrome requires care from an interdisciplinary team of experts. As one of the region’s leading facilities for correcting this condition, Gillette provides comprehensive services throughout the diagnosis and treatment process.

Additional specialties and services often involved in Apert syndrome care include:

For more of Gillette’s comprehensive services, search Conditions and Care.