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Apert Syndrome | Overview

What is Apert syndrome?

Apert syndrome, also known as acrocephalosyndactyly, is a genetic disorder characterized by deformities of the skull, face and limbs. Apert syndrome can occur between 1 out of every 60,000 to 80,000 births.

Apert syndrome may include:

  • craniosynostosis: A condition in which the fibrous joints, called sutures, between the bones of the skull fuse too early during a child’s development, changing the shape of the head and potentially increasing pressure on the brain.
  • midfacial hypoplasia: Decreased growth of the central face. This causes a sunken facial appearance and may cause difficulty breathing, called sleep apnea.
  • syndactyly: Fusion of the fingers and/or toes.

Other features of the genetic disorder may include prominent eyes, crowded teeth, cleft palate, hearing loss, fused spinal bones, and severe acne.

 

Dr. Amir Taghinia, MD: plastic and reconstructive surgeon

Apert Syndrome | Symptoms & Causes

What are the symptoms of Apert syndrome?

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
  • slower mental development due to the abnormal growth of the skull
  • cleft palate
  • vision problems caused by an imbalance of the eye muscles
  • recurrent ear infections, which can cause hearing loss
  • difficulty breathing due to a small nose and airway passages
  • increased perspiration (especially when asleep) due to hyperactive sweat glands
  • acne problems, especially during puberty

What causes Apert syndrome?

The precise cause of Apert syndrome is unknown. Doctors believe it's probably the result of genetic mutation that occurs early on in pregnancy in a gene called "fibroblast growth factor receptor 2," or FGFR2.

Because this gene plays an important role in bone growth, disruption of it may cause the physical traits of Apert syndrome, such as:

  • craniosynostosis: a birth defect in which one or more of the joints between the bones of your baby's skull close prematurely
  • syndactyly: webbed or conjoined fingers

The FGFR2 gene is also involved in similar craniofacial syndromes, including Crouzon syndrome, Pfeiffer syndrome, and Jackson-Weiss.

No known food, medication, or activity during pregnancy can cause your child to have Apert syndrome.

Apert syndrome can be inherited, or it may occur without a known family history. If one parent has Apert syndrome, there is a 50 percent chance that their child will be born with the disorder.

Apert Syndrome | Diagnosis & Treatments

How is Apert syndrome diagnosed?

Apert syndrome is usually diagnosed at birth by the physical signs, such as a tall skull and high, prominent forehead, underdeveloped upper jaw, prominent eyes, and fused fingers and/or toes. The fusion of the fingers and toes distinguishes Apert syndrome from other craniofacial disorders.

If Apert syndrome is suspected during pregnancy, your doctor may prescribe genetic testing to confirm the diagnosis.

After your child is born, a craniofacial surgeon, geneticist, neurosurgeon, and hand surgeon will evaluate your child. Their evaluation may include:

Treatment for Apert syndrome

Most children with Apert syndrome will require numerous operations into their adolescence and early adulthood. Your child may need surgeries to:

  • reshape the skull
  • improve the upper airway, which may be partly blocked
  • correct eye problems
  • address dental problems
  • separate webbed fingers or toes

Our doctors have significant expertise in:

  • surgical techniques to improve your child’s skull shape and allow the brain to have adequate space. These techniques include a minimally invasive option followed by helmet therapy, which some patients may qualify for if they are evaluated early in infancy. 
  • midfacial advancement (also known as Le Fort III distraction) to bring the middle part of your child’s face forward, opening up the airway and protecting the prominent eyes
  • treating airway obstruction
  • jaw surgery, combined with orthodontic therapy, to help correct the bite and improve jaw appearance and function
  • complex operations to separate and straighten fingers and toes

Whenever possible, our doctors perform safe and advanced treatments of the face and skull early in a child’s life in order to give the brain adequate room to grow and to minimize the risk of brain injury. Learn more about the Craniofacial Program at Boston Children’s Hospital.

How we care for Apert syndrome

Having a child born with Apert syndrome may feel overwhelming. Knowing your child will need medical care from a large team of doctors and clinicians is a lot for any parent to process. We hope you find comfort knowing that the Craniofacial Program at Boston Children’s Hospital is a national leader in the treatment of children with Apert syndrome.

Download our guide to diagnosis and treatment:

Families seeking the very best care for their child come to Boston Children’s for our:

  • nationally recognized care: U.S. News & World Report ranks Boston Children's Hospital higher in more specialties — including neurosurgery — than any other children's hospital in the country.
  • surgical expertise: Our surgeons are experience in multiple surgical techniques, allowing us to develop a specific treatment plan to best fit your child’s individual needs.
  • research and innovation: Our clinicians are involved in research that moves us closer to a better understanding of — and treatment for — all deformities of the head and face.

Apert Syndrome | Programs & Services