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.
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.
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:
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.
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.
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