Definition

Apert Syndrome is a rare condition in which a baby is born with physical abnormalities due to the early fusion of the skull. Parts of the body that may be affected include malformations of the skull (top of the head), face (bones formed in abnormal places), hands, and feet (fingers and thumbs fused or webbed).

Apert Syndrome is a genetic disorder with a dominant inheritance pattern, meaning a parent with the condition can pass it on to their child through their genes. Patients born with Apert Syndrome may have vision and dental issues due to the abnormal shape of their face and skull. In some cases, three or more fingers may fuse, a condition known as syndactyly.

Causes

A genetic mutation in the fibroblast growth factor receptor 2 (FGFR2) gene is responsible for the abnormal development of skull bones that causes Apert Syndrome. When this mutation occurs, the receptor doesn't properly communicate with fibroblast growth factors, leading to premature fusion of bones during fetal development. As a result, when the skull bones fuse too early, the baby's brain continues to grow, causing the skull, particularly the forehead and sides, to become misshapen.

About 95% of the time, the mutation happens randomly while the baby is developing in the womb. A parent with Apert Syndrome has a 50% chance of passing it on to their child.

Risk Factor

So far, the exact causes or risk factors of Apert Syndrome remain unclear. It can be inherited, with a 50% chance of transmission from a parent with the condition to their offspring. However, it can also occur randomly.

Symptoms

Babies with Apert Syndrome have irregularly shaped heads and faces. The primary symptoms include a long head with a high forehead, bulging eyes, and an asymmetrical face. These symptoms depend on which skull sutures close too early.

Key characteristics of Apert Syndrome that aid in diagnosis include:

• Skull: Your baby’s head may be longer than normal, with a prominent bulge on top (acrocephaly). The back and sides of the skull may appear flat, and the soft spots on your baby’s head may close later than usual
• Eyes: The baby’s eyes appear protruding and bulging. Vision problems may also occur due to muscle imbalances around the eyes
• Face: The baby may have a small or flat nose, cleft lip, and facial asymmetry.
• Hands and feet: The baby may have short fingers with wide thumbs, and the fingers may be fused together (syndactyly)

Diagnosis

Doctors usually suspect Apert Syndrome or craniosynostosis at birth through a physical examination. Early diagnosis can be made using 2D or 3D ultrasound or MRI during pregnancy to assess the baby’s skull development. After birth, physical exams can identify body abnormalities.

Further diagnosis may involve imaging tests like CT scans or MRIs to detect abnormalities at birth. Genetic testing is often recommended to differentiate Apert Syndrome from other skull malformation conditions by identifying FGFR2 gene mutations, confirming the diagnosis.

Management

The treatment for Apert Syndrome depends on its severity and often involves surgery to alleviate symptoms. If your child has skull- or brain-related issues (craniosynostosis or hydrocephalus), surgery will likely be scheduled between 2-4 months after birth to insert a shunt to drain excess fluid and relieve pressure on the brain.

You can read more about hydrocephalus, here: Hydrocephalus - Definition, Cause, Symptoms And Treatment

Reconstructive surgeries may be performed to correct malformations in different parts of the child’s body, such as:

• Eye surgery
• Jaw reconstruction (osteotomy)
• Chin plastic surgery (genioplasty)
• Nose plastic surgery (rhinoplasty)
• Separation of fused fingers or thumbs
• Skull reshaping surgery (cranioplasty)

Additional treatments may include:

• Hearing aids to improve hearing difficulties
• Respiratory devices to assist breathing
• Routine therapy, including physical and speech therapy
• Oral and dental care
• Eye care for vision issues

Complications

Complications from Apert Syndrome include:

• Vision problems
• Hearing loss
• Breathing difficulties
• Delayed learning abilities
• Short stature

Apert Syndrome may also affect other organs, including:

• Brain: Apert Syndrome can lead to increased pressure on the brain, affecting cognitive development and possibly causing intellectual disabilities
• Ears: Ear malformations often lead to frequent ear infections or hearing loss
• Eyes: Children may experience vision problems due to wide, bulging eyes
• Lungs: Depending on the severity, nasal malformations can cause breathing difficulties or sleep apnea
• Skin: Excessive oil production can lead to severe acne, and children may also sweat more than usual (hyperhidrosis)
• Teeth: Your baby’s teeth may overcrowd the mouth, causing dental issues as their teeth develop. Enamel formation may also be abnormal

You can read more about hyperhidrosis here: Hyperhidrosis—Definition, Cause, Symptoms And Treatment

Prevention

Apert Syndrome is a genetic condition, meaning parents cannot prevent it during pregnancy. If you’re planning to conceive, consider discussing genetic testing with your doctor to assess your risk of passing on genetic conditions. Genetic counseling can provide insights into potential conditions your future child may inherit and how to support them as parents.

When to See a Doctor?

You should consult a doctor if you notice signs in your baby such as:

• Breathing difficulties
• Frequent ear infections or trouble hearing
• Delays in developmental milestones
• Infection around surgical areas that appear red, swollen, or release clear fluid or pus

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