Recognizing the Physical Signs and Hidden Complications

Apert syndrome affects many parts of the body, some of which are visible at birth and others that require special imaging to detect. Understanding these features helps your care team create a comprehensive roadmap for your child’s health.

Visible Craniofacial Features

The most recognizable signs of Apert syndrome involve the skull and face. These are primarily caused by the way the bones grow and fuse before birth.

• Craniosynostosis: This is the premature closing of the growth plates in the skull ^[1]. In Apert syndrome, this usually involves the coronal sutures (the growth plates running from ear to ear across the top of the head), leading to a condition called bicoronal craniosynostosis. This restricts the skull’s ability to expand as the brain grows, often resulting in a tall, narrow head shape (acrocephaly) ^[2][3].
• Midface Hypoplasia: The middle part of the face (the cheekbones, nose, and upper jaw) grows more slowly than the rest of the face ^[1]. This can make the face look slightly sunken or “underdeveloped” ^[4].
• Exophthalmos and Hypertelorism: Because the eye sockets (orbits) are shallower than usual, the eyes may appear to protrude (exophthalmos) ^[1][5]. The eyes may also be spaced wider apart than average (hypertelorism) ^[1].
  • Immediate Safety Note: Babies with protruding eyes sometimes cannot close their eyelids completely during sleep. This can cause the eyes to dry out and damage the cornea. Check if your baby’s eyes stay slightly open while sleeping. If so, your doctor will likely prescribe lubricating drops or ointments to protect them.

Hands and Feet: Complex Syndactyly

In Apert syndrome, the fingers and toes are fused together in a pattern called complex syndactyly ^[1]. Unlike “simple” webbing, this often involves the bones themselves being joined together ^[6].

• Hands: This typically affects the second, third, and fourth digits, often creating a “mitten-like” appearance where the hand functions as a single unit before surgery ^[7][8].
• Feet: The toes are also fused. However, surgery on the feet usually requires fewer stages than the hands. The goal for foot surgery is to create a stable foot that can fit comfortably into standard shoes and support walking, rather than prioritizing individual toe dexterity ^[2].

The “Hidden” Findings

Some complications of Apert syndrome are not visible on the surface but are just as important to manage:

Musculoskeletal Restrictions
While the focus is often on the hands, many children also have limitations in their shoulders and elbows ^[7]. This can include a reduced range of motion, making it difficult to fully lift the arms or straighten the elbows ^[9]. Additionally, anomalies in the cervical spine (the bones in the neck) are common, though they often do not cause symptoms early in life ^[10].

Central Nervous System (CNS) Anomalies
The brain and its surrounding structures may develop differently:

• Ventriculomegaly: The fluid-filled spaces in the brain (ventricles) may be larger than average ^[11]. In many cases, this is stable and does not require surgery, but it must be monitored ^[12].
• Corpus Callosum Anomalies: The bridge of nerve fibers that connects the two halves of the brain may be partially or completely absent ^[10].
• Increased Intracranial Pressure (ICP): Because the skull is fused, pressure can build up inside. This is a primary reason for early cranial surgery ^[13][11].

Completeness Checklist: Initial Evaluation

In the first weeks of life, ensure your child’s team has completed or scheduled the following:

1. [ ] Genetic Testing: To confirm the FGFR2 mutation ^[14].
2. [ ] Brain Imaging (MRI or CT): To check for CNS anomalies and baseline ventricle size ^[10].
3. [ ] Airway Assessment: Evaluation for sleep apnea or airway narrowing ^[15][16].
4. [ ] Ophthalmology Exam: To ensure the protruding eyes are protected and the optic nerves are healthy ^[5].
5. [ ] Baseline Hand/Foot X-rays: To plan for future separation surgeries ^[6].
6. [ ] Cervical Spine & Joint Check: To screen for neck fusion or limited limb movement ^[10][7].