Apert Syndrome: What Is It, Symptoms, Diagnosis & Treatment

Overview

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What is Apert syndrome?

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.

Who does Apert syndrome affect?

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.

How common is Apert syndrome?

Apert syndrome is rare and occurs in 1 out of every 65,000 births.

Symptoms and Causes

The effects of Apert Syndrome on a child.
Apert syndrome causes growth abnormalities to a child’s face and hands because the child’s skull closed too soon.

What are the characteristics of Apert syndrome?

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:

Skull: Your baby’s head is taller than normal and appears pointed at the top (acrocephaly). The backside of their skull is flat. They have a high or broad forehead. Your baby’s soft spot may close late.
Eyes: Your baby’s eyes are widely spaced on the face, and may show signs of bulging or slanting downward.
Face: Your baby has a flat or beak nose, an opening in the roof of their mouth (cleft palate), or their face is not symmetrical.
Hands and feet: Your baby has short fingers with wide thumbs and their fingers or toes connect (syndactyly).

How does Apert syndrome affect my baby’s body?

Apert syndrome causes defining physical characteristics as your child develops but it can also affect other organs in your child’s body including:

Brain: Apert syndrome causes pressure on the brain, which can disrupt how your child learns and thinks (cognitive development). They may face mild to moderate intellectual disabilities.
Ears: It’s common for the sides of your child’s head to be the first to close during development, which could alter how your child’s ears form. This could result in frequent ear infections or hearing loss.
Eyes: Your child could have vision problems due to their bulging, slanting or wide eyes.
Lungs: Depending on the severity of your child’s diagnosis, the way that their nose formed could cause breathing problems or sleep apnea, which is the result of blocked airways.
Skin: Your child’s skin may produce excess oil, which could cause severe acne to develop. They may also sweat more than normal (hyperhidrosis) and have patches of skin with no hair (missing their eyebrows).
Teeth: Your baby’s teeth could overcrowd their mouth, causing dental problems when their teeth start to form. They could also be missing teeth and have irregular enamel forming on their teeth.

What causes Apert syndrome?

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 and Tests

How is Apert syndrome diagnosed?

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.

Management and Treatment

How is Apert syndrome treated?

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:

Surgery to correct the eyes.
Jaw reconstruction surgery (osteotomy).
Plastic surgery of the chin (genioplasty).
Plastic surgery of the nose (rhinoplasty).
Separation of connected fingers and toes.
Skull reshaping surgery (cranioplasty).

What medications or treatments are used to alleviate Apert syndrome’s side effects?

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:

Hearing aids for hearing impairments.
Breathing machines or treatments for difficulties with airway obstruction.
Scheduled visits with therapists, including physical therapy, occupational therapy and speech therapy.
Care for your child’s mouth and teeth.
Vision assessment due to concerns with the eyes.

Is there a cure for Apert syndrome?

There is no known cure for Apert syndrome. Surgery will significantly reduce your child’s symptoms to help them lead a normal life.

Prevention

How can I reduce my risk of having a child with Apert syndrome?

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.

Outlook / Prognosis

What can I expect if I have a baby with Apert syndrome?

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.

Living With

When should I see my healthcare provider?

You should visit your healthcare provider if you notice that your baby:

Has trouble breathing.
Gets frequent ear infections or has trouble listening to simple commands.
Doesn’t reach developmental milestones.
Has an infection at their surgery site where it becomes red, elevated, swells or oozes yellow or clear pus.

What questions should I ask my doctor?

What type of treatment do you recommend for my baby’s diagnosis?
What are the risks of surgery?
Will the shape of my baby’s head affect how they learn?
Is it likely that I will have another child with Apert syndrome?

Frequently Asked Questions

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:

Carpenter syndrome: Carpenter syndrome is identical to Apert syndrome — where the baby’s skull fuses too quickly causing abnormalities of the baby’s skull. Fusion of the fingers and toes (syndactyly), is also seen with this syndrome. The difference is that Carpenter’s syndrome is acquired genetically when both parents pass the gene onto their child (autosomal recessive).
Crouzon syndrome: Crouzon syndrome causes facial abnormalities due to the baby’s skull fusing too soon.
Pfeiffer syndrome: Pfeiffer syndrome causes abnormalities of the skull and face, along with thumbs and big toes appearing wider than normal and bending away from other fingers and toes.
Saethre-Chotzen syndrome: Saethre-Chotzen syndrome causes uneven, asymmetrical facial features due to the joints in the skull fusing too soon.

What is the difference between Apert syndrome and Crouzon syndrome?

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.