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Apert syndrome is a rare genetic disorder that affects about 1 in 65,000 babies. Children born with Apert syndrome will have abnormalities of the bones of the skull and face as well as the hands and feet. Another name for Apert syndrome is acrocephalosyndactyly.
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.
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:
Apert syndrome has a set of features common to people with the condition. Symptoms can include:
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.
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:
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:
Learn more about these surgical options.
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.
Meet our team at UPMC Children's Hospital of Pittsburgh's Cleft-Craniofacial Center and learn about our treatment options, or contact UPMC Children's Hospital of Pittsburgh at 412-692-8650.
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
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