Introduction

Pfeiffer syndrome is a rare genetic condition in which the bones of the baby's skull fuse too early, a process called craniosynostosis. Because of this premature fusion, parts of the skull and face cannot grow normally, causing distant facial features and changes to teeth and jaws. The syndrome is caused by a mutation in the FGFR1 or FGFR2 genes, which are important for bone growth. There are several types of Pfeiffer syndrome, ranging from mild to severe. Even in mild forms, the way the face develops often affects the upper jaw, cheek, and bones, and the alignment of teeth. Early recognition and treatment of dental and orthodontic issues are key to improving how people with this syndrome eat, breathe, speak and feel about their appearance.¹

Craniofacial and dental features  

One of the most consistent features in Pfeiffer syndrome is midface hypoplasia, which means that the upper jaw (maxilla) and the cheekbones do not grow forward enough. This can lead to a sunken appearance in the middle of the face. Because the upper jaw is behind, the lower jaw can appear more prominent, even if it is of normal size. The mismatch between jaws often causes a “Class III malocclusion” where the lower teeth are positioned ahead of the upper teeth.²

Another typical problem is a high-arched palate (the roof of the mouth) or, in some cases, a cleft palate, which is a gap or opening in the roof of the mouth. These structures often complicate how the teeth erupt and grow. Crowding of teeth is very common because there is not enough space in the upper jaw. There are often missing teeth (hypodontia), sometimes extra teeth, and teeth with enamel defects, meaning the outer coating is weak or malformed. 

Delays in tooth eruption are also reported. Teeth that would normally appear at a certain age come in later, or erupt in unusual positions. All these features together make both ordinary dental hygiene and more complex dental work more difficult.³

Functional challenges

The jaw and facial structure are altered in Pfeiffer syndrome, making several everyday necessities challenging.

• Breathing: the small upper jaw and mid-face deficiency can make the nasal passages and airway narrower, contributing to breathing difficulties, especially during sleep. Some cases require surgical advancement of the mid-phase to open the airway²
• Feeding: infants may have trouble feeding because chewing or sucking is hard when jaws and mouth structure are not aligned well, or when there is a cleft palate or airway obstruction. In some cases, special feeding tools or techniques are used⁴ 
• Speech: the shape of the palate, the alignment of teeth and the jaw relationship affect how sounds are produced. A high palate, cleft palate, or misaligned bite can lead to nasal-sounding speech or difficulties in articulating certain sounds³
• Chewing and nutrition: when teeth do not line up properly (malocclusion), it becomes difficult to bite into food, chew well, or maintain a proper diet. Poor chewing can limit food choices and even cause digestive issues⁴

Orthodontic considerations 

Orthodontic care involves correcting teeth and jaw alignment. In Pfeiffer syndrome, the path is more complicated than for typical cases.  

• Early intervention: in young children, orthodontists may use devices to try to guide jaw growth or hold spaces for teeth, but the skull bones fuse early, so some growth cannot be rescued, making surgery necessary⁵ 
• The timing of treatment: must consider both natural growth and planned surgeries. Some orthodontic work is best done before surgery to align teeth, and other parts are best done after surgery. The coordination between the orthodontist and the craniofacial surgeon is crucial⁵
• Space management: decisions about extracting teeth (if there are too many or they are crowded) or preserving them (if too few) must be made carefully.  Missing or malformed teeth complicate how braces or appliances can work³ 
• Distraction: osteogenesis is sometimes used in severe cases. This is a technique where the bone is surgically cut and then gradually separated using a special device. New bone fills the gap, bringing the upper jaw forward and improving both appearance and breathing⁶

Surgical and orthodontic interplay   

Orthodontics alone cannot correct the skeletal issues in Pfeiffer syndrome, hence, surgery is often needed.

One common surgery is the Le Fort III osteotomy (sometimes with distraction), which helps move the middle of the face - the upper jaw, cheekbones, and parts of the nose - forward. This helps correct biting, improve breathing and restore more normal facial proportions.⁵

In more severe cases, surgeons may “overcorrect” during midface advancement, meaning they move the bones further than what seems immediately needed, to anticipate future growth and improve the airway. Even then, some problems, such as breathing difficulties, may not be fully resolved.⁷

After surgery, orthodontic treatment continues to adjust teeth, refine alignment and ensure biting works well over time. Good planning before surgery (pre-surgical orthodontics) makes surgical corrections more effective, and continuing care after surgery is essential to maintain results.⁴

Preventive and restorative dental care

Because the teeth of Pfeiffer syndrome patients often have enamel defects, are crowded or erupt late, there is a high risk of tooth decay and other dental problems. 

Preventive care is critical. Regular dental checkups, careful brushing and flossing, application of fluoride and sealants can help protect teeth. The position of teeth (crowded, crooked) can make cleaning hard. Parents and caregivers play a big role in helping maintain hygiene.

Restorative work is also needed for teeth that are malformed, weak or missing. Dental restoration, such as fillings, crowns, or prosthetic replacement, can help restore function. Orthodontic plans need to consider which teeth will be restored or replaced so they do not interfere with braces or surgery.³ 

Psychosocial and quality of life aspects

Dental and facial differences affect more than just function - they also influence how a person feels and interacts with others. 

Because Pfeiffer syndrome changes face appearance, many people - especially children - may feel self-conscious or experience bullying. Improving appearance through surgery or orthodontics often boosts self-esteem and social confidence.

Speech problems, breathing difficulties, or challenges in eating can also affect social interactions. If someone struggles with speech clarity or eats differently, they might avoid talking or eating in public. Addressing these functional problems has significant emotional benefits.⁴

Multidisciplinary approach

Pfeiffer syndrome affects many systems, and dental and orthodontic issues require a team of specialists, and each patient needs an individualised plan

The team typically includes craniofacial surgeons, orthodontists,  paediatric dentists, speech therapists, and ENT doctors. Coordination among these specialists ensures that surgical interventions, orthodontic treatment, dental restorations, speech therapy, and airway management align in timing and goals.^5,8

Future directions and research

Improved knowledge and techniques can help people with Pfeiffer syndrome. Advances in imaging and surgical methods may lead to safer midface surgeries. More studies are needed on long-term outcomes and dental issues in Pfeiffer patients.³

Summary

People with Pfeiffer syndrome face complex dental and orthodontic challenges. Their upper jaws and cheekbones tend not to grow enough, teeth may be missing or malformed, and the way upper and lower teeth align is often severely off. These problems affect not only how they look, but also how they eat, speak, breathe, and feel about themselves.

Fixing these issues involves more than just braces. Surgery is often needed to move bones, restore the airway, and make room for normal alignment. To do this, it requires a team of different specialists to work together, plan ahead and tailor treatment to each person’s needs.