Apert Syndrome

Apert syndrome causes

Apert syndrome is a genetic condition that may occur due to random genetic changes with no known cause. Children can also inherit a gene mutation for Apert syndrome from a parent who has Apert syndrome.

Only one parent needs to carry the gene to pass it on to their child. Each child born to a parent with the syndrome has a 50 percent chance of inheriting it.

Apert syndrome risk factors and complications

Having a family member with Apert syndrome is a known risk factor for being affected. Children born to older fathers may also be at an increased risk.

Because Apert syndrome can affect each child differently, complications will also differ.

For example, a child with craniosynostosis may have problems with skull and brain growth as well as vision problems. If there are problems with the bones of the face and jaws, the child may have breathing and feeding problems.

Some children may have other bones that fuse, including the wrist or spine, which can impair growth.

Apert syndrome can also cause problems with your child's internal organs, including the:

• Heart
• Stomach
• Intestines
• Kidneys
• Reproductive system

Apert Syndrome Symptoms and Diagnosis

Apert syndrome has a set of features common to people with the condition. Symptoms can include:

• Craniosynostosis – the bones of the skull grow together too soon, affecting the growth and shape of the head and risking inury to the brain.
• Midface hypoplasia – the middle of the face appears flat or underdeveloped which can affect the bite and the airway.
• Cleft palate – a hole in the roof of the mouth.
• A beaked (like a bird's beak) or flat nose.
• A high, sometimes wrinkled forehead.
• Eyes that are too far apart, appear large, and may not close all the way.
• Breathing problems due to the flat face or other airway problems.
• Increased pressure inside the skull.
• Developmental delays.
• Vision and hearing problems.
• Webbed fingers and toes, sometimes with bones fused.
• Skeletal problems such as spine, arm, or wrist bones that fuse.
• Problems with some internal organs.

Families often feel stressed caring for a child with Apert syndrome because of the extra care the child may need. And as they grow older, children often realize they're a little different from other children, which can cause the child distress.

Apert syndrome diagnosis

Doctors most often diagnose children with Apert syndrome at birth.

If your child has some of the symptoms listed above, your doctor may order a genetic blood test to confirm Apert.

Doctors sometimes diagnose Apert syndrome before birth. If a parent or other close family member has this syndrome, your doctor may recommend testing for it.

If your doctor suspects that your child might have this syndrome, they will:

• Do a full-body physical exam to find out what parts of the body the condition has affected.
• Order X-rays, CT scans, MRIs, or even ultrasound, to see inside your child's body.
• Take blood samples for genetic testing.
• Your child's doctor will also want to know about your family medical history.

Apert Syndrome Treatment

Patients with Apert syndrome will require many different types of treatment throughout their childhood. Because some problems are more serious than others, your team will focus on those first. This includes making sure that your child's breathing is normal, their eyes are healthy and their brain is safe and developing normally. Your child's team can address other issues as he or she grows.

Our experts will design a plan of care made just for your child. This plan will address both short- and long-term needs and goals.

Based on your child's condition and needs, your team may suggest the following treatments:

• Surgery for craniosynostosis (such as craniectomy, posterior vault distraction, or cranial vault remodeling).
• Treatments or surgery to help breathing problems (including supplemental oxygen, CPAP, tracheostomy).
• Cleft palate surgery.
• Surgery to fix bones in the face that are too small or out of place.
• Surgery to correct hand or foot webbing, or bone abnormalities.
• Surgery to correct problems with internal organs.

Learn more about these surgical options.

• Our experts come from various disciplines and have the training required for caring for children with complex craniofacial conditions.
• We'll tailor a treatment plan based on your child's needs. We consider all aspects of your child's health including their brain and skull and eyes, airway and feeding, hands and feet, and self-image.
• We work with other specialists to make sure your child gets the right care at the right time.

Our goal is to achieve optimal appearance, speech, hearing, and brain psychosocial development at the earliest possible age.

Meet our team at Cleft-Craniofacial Center and learn about our treatment options.