Craniofacial Anomalies in Apert Syndrome

Craniofacial anomalies in Apert Syndrome can pose serious risks to the patient’s health and development, therefore necessitating early surgical intervention in order to enable proper brain growth and to increase the likelihood of achieving normal intellectual progress. Because Apert Syndrome is a form of craniosynostosis, the skull bones fuse together prematurely causing skull malformation and increased intracranial pressure. Skull plate distortion in Apert Syndrome typically leads to multiple facial abnormalities, of which most patients have several, but not necessarily all.

Some of the craniofacial anomalies which are specific and/or common to Apert Syndrome include:

• Unusually long head shape
• High forehead
• Wide-set, bulging eyes with shallow sockets (usually causes difficulty closing the eyelids and/or vision problems)
• Beak-shaped nose
• Recessed, or sunken, mid-face
• Cleft palate
• Underdeveloped upper jaw with underbite
• Crowded dentition

Children with Apert Syndrome often experience related anomolies such as:

• Obstructive sleep apnea
• Gastroesophageal reflux disease
• Chronic middle ear infections

Treating these craniofacial anomalies requires multiple surgeries and careful planning by an experienced team of specialists, such as the Craniofacial Team of Texas, working together closely in order to avoid unnecessary complications and to achieve the highest level of successful treatment possible.

Craniofacial Surgical Care for Apert Syndrome

Surgical intervention for craniofacial anomalies associated with Apert Syndrome is often performed in phases, with at least 3 steps.

• Craniosynostosis release: This surgery is typically performed at approximately 6-8 months of age and involves separating the fused cranial sutures to allow adequate room for brain growth and reduce the risk of brain damage. In some cases, craniosynostosis release can be performed endoscopically and followed up with helmet therapy, which reduces the chance of skull deformity.

Depending on the needs of the patient and which skull sutures are fused, other non-endoscopic procedures may be utilized. A neurosurgeon and plastic surgeon from your team will work together to release the sutures and shape the skull. Most Apert Syndrome patients will undergo 2-4 skull surgeries during their lifetime.

• Midfacial advancement surgery (Le Fort III): Through a specialized technique (distraction osteogenesis), the midfacial bones will be brought forward slowly, giving the patient more natural looking facial features. The Le Fort III procedure also results in the opening of the airway (improving obstructive sleep apnea) and protection of the eyes. This procedure is typically performed when the Apert patient is between 4 and 12 years of age (usually between ages 6 and 8).

• Hypertelorism correction: Surgery to correct wide-set eyes is performed by removing a wedge of skull bone located between the eyes. The eye sockets are brought closer together and, in some cases, the jaw may be adjusted (orthognathic surgery).

Some Apert Syndrome patients may require an upper jaw surgery (Le Fort I advancement) upon cessation of jaw bone growth. Surgery to improve forehead appearance can be performed in adulthood if the patient desires.

Other surgical procedures that may be recommended for patients with Apert Syndrome include:

• Lateral or medial tarsorrhaphy: Eye lid surgery to protect the corneas and preserve vision
• Tracheostomy: Used in severe cases of sleep apnea
• Bilateral myringotomy: For chronic ear infections
• Rhinoplasty: Nasal reconstruction to correct ptotic nasal tip, flat nasal dorsum, and/or nasofrontal angle
• Genioplasty: Reconstructive surgery of the chin and/or cheeks
• Cleft palate repair: 30% of Apert patients have a cleft palate
• Tonsillectomy/adenoidectomy: For treating sleep apnea

Medical and Home Management of Apert Syndrome

In addition to surgical procedures, Apert Syndrome patients require various types and degrees of ongoing medical care. Some areas of concern associated with Apert Syndrome can include:

• Eye care: Protect the corneas by keeping the eyes lubricated. Use artificial tear drops during waking hours and lubricating ointments at night. Gently clean your child’s eyelashes with baby shampoo while eyes are closed to keep accumulated bacteria out of the eyes. If eye infections are a problem, have your child wear protective eyewear, especially outdoors.

• Ear care/ear infections: Because Apert Syndrome often presents with malformed or lower-set ears, paying extra attention to ear cleansing may be warranted to keep dirt or excess secretions from building up. Your doctor may prescribe antimicrobial therapy (usually amoxicillin) to prevent infections. Hearing aids may be necessary if your child has hearing loss associated with Apert Syndrome.

• Nasal care/breathing problems: Nasal deformity can cause breathing difficulty and blockage to occur. Nasal suction can be used to clear your child’s nasal passages of secretions that may cause congestion. Using a humidifier or over-the-counter decongestants can be helpful in clearing nasal passages. Place your child on his/her side to sleep rather than on the back to eliminate drainage entering the throat. Specialists on your craniofacial team will check for and monitor breathing problems.

• Obstructive sleep apnea (OSA): If your child has OSA associated with Apert Syndrome, your doctors may recommend a polysomnography (sleep study). Use of a continuous positive airway pressure (CPAP) device may be necessary to help your child’s breathing at night. Le Fort III surgery often corrects OSA and restores adequate breathing.

• Dental treatments: Apert Syndrome can affect occlusion (the way teeth come together), as well as the eruption of teeth. A pediatric dentist and orthodontist experienced in treating craniofacial disorders can create an early treatment plan which can help avoid unnecessary loss of teeth. Jaw surgery to improve functionality and appearance is typically included in one or more of the phases of surgery for Apert Syndrome.

• Psychological challenges: Counseling is extremely beneficial with the emotional adjustments, body image development, and impact of multiple surgeries and hospitalizations that Apert Syndrome patients face. Parental counseling and support groups are also recommended for family members of Apert patients.

All medical and surgical treatments for Apert Syndrome contribute to the physical, psychological, and social well-being of the patient, enhancing functionality, social integration, and self-confidence. At the Craniofacial Team of Texas, we are committed to meeting the needs of all our patients and their families through a multidisciplinary approach which addresses all facets of the condition we are treating and the health of each patient physically and emotionally. You can read about Apert Syndrome at Genetics Home Reference if you would like to learn more. 

If you would like more information about the treatment for Apert Syndrome or craniofacial anomalies associated with Apert Syndrome, please contact the Craniofacial Team of Texas by calling 512-377-1142 or toll free 877-612-7069 to schedule an appointment or complete our online appointment request.