Apert syndrome is a rare genetic condition that occurs when the joints (sutures) in your baby's skull close too soon during fetal development. As a result, your baby's skull, face, hands and feet show distinct characteristics that diagnose the condition, including webbed fingers and toes and having a broad and tall forehead.
Apert syndrome is a rare condition where your baby is born with physical abnormalities because joints in their skull close too early. Areas of a child’s body that lead to an Apert syndrome diagnosis include the skull (the point at the top of the head), face (bones forming in irregular places), feet and hands (fingers and toes connected or webbed). Apert syndrome is genetic and autosomal dominant, which means that one parent could pass the condition onto their child through their genes.
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Apert syndrome is a rare condition caused by a genetic mutation that occurs early during pregnancy. The mutation could be inherited or newly formed (de novo). There is a 50% chance that you could have a child with Apert syndrome if one parent has the genetic condition (autosomal dominant). Genetic mutations are not the result of something the parent did while pregnant.
Apert syndrome is rare and occurs in 1 out of every 65,000 births.
Apert syndrome occurs when joints (sutures) between bones in your baby’s skull close early (craniosynostosis). The early closure of their skull prevents the bones from developing normally, causing changes to the facial bones. Depending on which sutures closed too soon, your baby could have several defining physical characteristics that lead to an Apert syndrome diagnosis, including:
Apert syndrome causes defining physical characteristics as your child develops but it can also affect other organs in your child’s body including:
A genetic mutation of a gene, fibroblast growth factor receptor-2 or FGFR2, which is responsible for skeletal development causes Apert syndrome. When the gene mutation occurs, receptors don't communicate with fibroblast growth factors causing joints (sutures) between bones to close too soon during fetal development. When sutures close early, your baby’s brain is still growing and the bones in the skull, especially in the forehead and sides of the skull, change shape. The irregular formation of the bones leads to malformations of their body.
Diagnosis of Apert syndrome normally occurs after the child is born, but an early diagnosis is possible during pregnancy with a prenatal 2D or 3D ultrasound or MRI to track your baby’s skeletal development. Your child’s healthcare provider will provide a physical examination to identify any abnormalities to their body. Secondary testing, using imaging tests like a CT scan or an MRI, will detect any physical abnormalities present once the child is born (congenital defects). Your healthcare provider will also recommend genetic testing, looking for a mutation of the FGFR2 gene, to confirm the diagnosis. Your baby will still receive regular newborn screenings, with emphasis on a hearing test to check for hearing impairment caused by the condition.
Treatment for Apert syndrome varies based on the severity of your child’s diagnosis. Treatment most often involves a type of surgery to alleviate symptoms.
If your child has symptoms that affect their skull or brain (craniosynostosis or hydrocephalus), your healthcare provider will schedule surgery between two to four months after they are born to correct the condition by inserting a tube (shunt) to drain the fluid and release pressure from the brain.
Reconstructive or corrective surgery could adjust any part of your child’s body that formed abnormally including:
Your child will be able to reach their full potential with early intervention treatment advised by your healthcare provider. Types of treatment for your child include:
There is no known cure for Apert syndrome. Surgery will significantly reduce your child’s symptoms to help them lead a normal life.
Since Apert syndrome is a genetic condition, there is nothing parents can do to prevent it from occurring during pregnancy. If you are planning on becoming pregnant, talk with your healthcare provider about genetic testing to see if you are at risk of passing certain genes onto your child. Genetic counseling helps explain the chances of having future children with the disorder and offers support to new parents.
Apert syndrome is a lifelong condition with no cure. Surgery to release pressure to the brain, along with reconstructive surgery, will occur soon after your baby is born. Close follow-up with multiple specialists is necessary for your baby. After surgery and with ongoing treatment, babies born with Apert syndrome have a regular life expectancy and should stay up to date with their healthcare provider to address any concerns they might face as they grow older. You should schedule regular visits with providers to examine your child’s vision, teeth and hearing as they grow. Your child may need follow-up surgery as they develop to target any persistent symptoms of the condition.
You should visit your healthcare provider if you notice that your baby:
Symptoms of Apert syndrome are similar to other conditions as a result of the baby’s skull bones fusing together too soon (craniosynostosis) during fetal development. Related conditions include:
Apert syndrome and Crouzon syndrome share some of the same characteristics since they both occur when the joints in the skull close too soon during fetal development. While both conditions cause the skull to form a crescent moon or sunken face (midface hypoplasia), the difference between the two conditions is that Apert syndrome also affects body parts beyond the skull, like fused fingers and toes (syndactyly). Crouzon syndrome only affects the formation of the skull.
A note from Cleveland Clinic
Apert syndrome is a genetic condition that may require several surgeries to alleviate symptoms but ultimately leads to your child living a full and normal life. If you have a history of Apert syndrome in your family and you are planning on becoming pregnant, talk with your healthcare provider about genetic counseling to identify any potential risks as you grow your family.
Last reviewed by a Cleveland Clinic medical professional on 11/22/2021.
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