Apert Syndrome

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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

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
Little girl holds a guitar

‘Peace of mind’

“She has a team we can count on, no matter what,” said the mom of Maisie, who is being treated at Boston Children's.

Apert syndrome causes

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.

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:

Meet our Apert syndrome specialists

Our team includes experienced neurosurgeons, plastic surgeons, oral and maxillofacial (jaw) specialists, dentistry professionals, psychologists, and social workers — all working together to address the many needs of your child and your entire family.

Drs. John Meara and Mark Proctor were at work in the Cleft and Craniofacial Clinic.

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.