What is Apert syndrome?

Apert syndrome, also called acrocephalosyndactyly, is a genetic syndrome characterized by anomalies of the skull, face and limbs. Gene mutations are responsible for causing the early fusion of the skull, hand and feet bones.

How common is Apert syndrome?

Apert syndrome is an extremely rare condition. Though exact data is still being collected, it is believed to affect one in about 65,000 to 88,000 births.

Who does Apert syndrome affect?

Apert syndrome is a genetic mutation that often occurs early during pregnancy.

The mutation itself is either inherited or newly formed. If it is newly formed, that means it was not passed to the child by the parents.

If one parent has Apert syndrome, there is a 50% chance that their child will be born with the condition. In situations where a child has Apert syndrome, it’s important to remember that there was nothing either parent did or did not do to cause this outcome.

What causes Apert syndrome?

While the genetic mutation behind Apert syndrome may be inherited or newly formed, it is believed that gene FGFR2 is the main Apert syndrome cause.

FGFR2, also known as fibroblast growth factor receptor 2, is largely responsible for bone growth. When the gene is affected, receptors in your child’s body don’t communicate.

In a growing body, this can lead to the early closure of the joints between bones, causing irregular bone formation and conditions such as Apert syndrome.

What are the symptoms of Apert syndrome?

Individuals with Apert syndrome typically also have the following conditions:

• Craniosynostosis, which is a condition that occurs when early closure of one or more of the seams between the skull bones causes an abnormally shaped skull. This results in a skull shape with increased vertical height.
• Midface hypoplasia or decreased growth of the midface. This causes a crescent moon or sunken facial appearance with a depressed nasal bridge and beak nose. Decreased growth of the central face can contribute to obstructive sleep apnea and airway concerns.
• Syndactyly or fusion of the fingers and toes. The hand can resemble a spade, mitten or rosebud.

Additional characteristics of Apert syndrome

Other common characteristics include: 

• Large, elongated forehead
• Shallow eye sockets causing prominent eyes
• Narrow palate with or without a cleft
• Fused bones in the arms, elbows and hips
• Hearing loss

The characteristic feature that distinguishes Apert syndrome from other types of syndromic craniosynostosis is the presence of hand anomalies, often syndactyly fused or webbed fingers.

There are three main types of syndactyly in Apert syndrome:

How is Apert syndrome diagnosed?

There are several ways to determine if your child may have Apert syndrome. Baby testing for Apert syndrome may occur while the child is still in the womb, using ultrasound.

Post birth, it may be possible to determine visually whether your child has Apert syndrome, especially if syndactyly is present. Newborn screenings, with emphasis on testing for hearing impairment, will be important as well.

Other tests which may be used to determine the presence or severity of Apert syndrome include:

• Computed tomography (CT) scan
• X-ray
• MRI (magnetic resonance imaging)

Genetic testing will also likely be ordered to determine whether your child’s condition was inherited or formed without a family history.

How is Apert syndrome treated?

Patients with Apert syndrome can have related health and developmental issues, reinforcing the need for coordinated, multidisciplinary care and access to a variety of pediatric subspecialists.

At CHOP we have a comprehensive Craniofacial Program where patients are seen by the following specialties:

• Plastic surgeons, specifically craniofacial and hand surgeons
• Oral surgeons
• Neurosurgeons
• Otolaryngologists (ear, nose and throat specialists)
• Pediatric dentists
• Craniofacial-trained orthodontists
• Geneticists
• Speech and language pathologist
• Audiologist
• Psychologists
• Advanced practice providers
• Nurses
• Pulmonary and sleep medicine

The treatment of Apert syndrome is dependent upon both functional and appearance-related needs and should be addressed immediately after your child is born. Because of the complex issues that can be associated with Apert syndrome, your child should be treated at a medical center where she will have access to pediatric specialists across the many clinical areas she may need.

At Children’s Hospital of Philadelphia, coordinated care of patients with Apert syndrome is typically managed through the Craniofacial Program. Our experienced craniofacial surgeons will help guide your child through craniosynostosis repair and other surgeries to address symptoms related to airway, dental/jaw relationships and craniofacial relations.  Referral to a specialized hand surgeon with expertise in treating and repairing hand deformities is an important element of care for children with Apert syndrome. The Hand and Arm Disorders Program at CHOP is the region’s largest multidisciplinary center, treating children with congenital deformities of the hand.

Children with Apert Syndrome benefit from routine psychosocial support to address any behavioral, developmental, academic, emotional or social difficulties associated with their condition, appearance differences, and surgical treatments throughout childhood.

Additionally, our Craniofacial Team maintains close collaboration with Genetics, Ophthalmology, Speech, Otolaryngology (ENT), Audiology and Neurosurgery to help provide comprehensive craniofacial care. 

Families also benefit from specialized programs such as CHOP’s Center for Pediatric Airway Disorders and the Division of Pulmonary and Sleep Medicine to address breathing issues, as well as the Pediatric Feeding and Swallowing Center to manage feeding issues.

Watch our educational video to learn more about the services and treatment options CHOP offers to children with craniofacial conditions such as Apert syndrome.

What is the timeline of treatment for Apert syndrome?

The timeline for Apert syndrome treatment will be dependent upon several factors, including your child’s age and the specific area(s) of their body affected.

Is there a cure for Apert syndrome?

There is no known cure for Apert syndrome. Surgery will significantly reduce symptoms and help your child lead a happy, healthy life.

What is the prognosis of Apert syndrome?

Since there is no cure, Apert syndrome is a lifelong condition. 

Life expectancy for apert syndrome is good. Long-term care and follow-up visits will be important to assess your child’s growth and development as they age. 

It is possible that they may need to undergo additional procedures to alleviate certain symptoms if they persist.

CHOP’s areas of expertise for Apert syndrome

At CHOP, our experts have a long record of successfully treating Apert syndrome. We have become a trusted referral center for patients with Apert syndrome and their families.

We continue to pursue research in gene mutation and the physical abnormalities they can cause, including conditions such as Apert syndrome.

CHOP research breakthroughs bring us closer to healthcare solutions for pediatric diseases and conditions, every day.