Introduction 

Pfeiffer syndrome (PS) is described as a genetic condition. This condition causes the bones in the skull to close before the brain has time to fully develop. This is called craniosynostosis. In turn, this causes deformities that are used in diagnosis, such as an underdeveloped face, eyes that are bulging or wide and an uncommonly shaped head. Due to this, individuals with PS can have airway problems, which can cause life-impacting issues.^1,2 It is important that airway problems are discussed in order to help the general public to understand why these symptoms occur, how they are managed and what families can expect from it, which is what this article will touch base with.

Section 1: Understanding pfeiffer syndrome

In short, Pfeiffer Syndrome is described as a type of complex craniosynostosis. Craniosynostosis is when a baby’s skull isn’t developed properly, leading to an uncommon shape.^3,4 There are up to three types of Pfeiffer Syndrome, called Type 1, 2 and 3. These range from mild, moderate and severe, making the syndrome a spectrum disorder.

As PS is a genetic condition, it is caused by a change in a specific gene. For example, the gene that causes Type 2 PS is the FGFR2 gene, while children who are born with Type 1 are caused by the FGFR2 gene or the FGFR1 gene. This can be passed down from a parent to a child; however, it can also appear spontaneously.³

When it comes to the development of the skull, the skull is made up of ‘plates’ of bones that are not usually joined together to begin with. As babies grow, the plates fuse together, causing a seam called “sutures” after the head has fully developed. However, if a child has craniosynostosis, the plates are fused before birth, and if more than one plate is affected, then it is considered a complex craniosynostosis. This, in turn, causes the head to develop in an uncommon shape. In PS,  three types of sutures that are fused before birth.³ These are:

• Coronal
• Lambdoid
• Sagittal³

Due to the head's uncommon and unusual shaping and development, PS can cause a person with the syndrome to develop midface hypoplasia. This is described as the underdevelopment of the middle section of the face, making it look sunken in appearance. This causes potential airway obstruction, sleep apnoea and a concave facial profile.⁵

Section 2: Why airway problems happen 

Since Pfeiffer syndrome is considered a craniofacial disorder, it is common that people with this syndrome develop upper airway obstruction, known as a blockage, because of craniosynostosis. Think of this like a tunnel that becomes too narrow due to its uncommon development, which causes less airflow to get through it. It can also affect the lower respiratory system due to the development of the tracheal cartilaginous sleeve (TCS). TCS is an airway malformation where distinct C-shaped tracheal rings are replaced with continuous O-shaped cartilaginous segments.⁶

Babies with craniosynostosis syndromes such as PS typically have airway deformations such as midface hypoplasia, which can contribute to upper airway blockages. Additionally, as babies tend to be nasal breathers, they may likely develop respiratory difficulty because of nasal obstruction caused by midface hypoplasia.⁷

People with PS can also develop Maxillary hypoplasia, which is when the maxilla (jaw) is underdeveloped, causing midfacial deficiency. This contributes to the narrowing of the upper airway system.^8,9 This causes:

Snoring

• Nasal regurgitation (food spitting up from the stomach and oesophagus)
• Aspiration of food
• Obstructive sleep apnoea^8,9

Section 3: Recognising the signs

There are many signs of a person who has an airway problem caused by Pfeiffer syndrome. This includes their airways being narrower due to underdeveloped or uncommon development from birth, as well as being prone to developing sleep disordered breathing, which includes obstructed sleep apnoea, and upper airway resistance syndrome.¹⁰

Additionally, due to the restricted brain growth due to craniosynostosis, this can lead to intracranial pressure and central sleep apnoea.¹⁰

Both obstructive and central apnoea can potentially lead to:

• Snoring (with short gasps for air)
• Waking up out of breath (choking)
• Neurocognitive impairment
• Behavioural difficulties
• Failure to thrive
• Pulmonary hypertension
• Congestive heart failure
• Death^10,11

People with Pfeiffer syndrome may also experience frequent respiratory infections.¹²

Section 4: Management approaches

There are various management approaches for the airway complications caused by Pfeiffer syndrome.

Based on the ABCDE approach, taking immediate action to obstructed airways is important because untreated airway obstruction may lead to cardiac arrest quickly.¹³

People who have PS can develop midface hypoplasia or secondary nasal obstruction, which produces snoring and obstructive sleep apnoea, signifying an obstructed airway. Typically, mask ventilation and bagging can help manage an obstructed airway, but because of the uncommon development of the face, it may be difficult. Healthcare professionals would look to the use of an oropharyngeal airway device. This is an intraoral device that shapes to the tongue and pushes it away from the posterior pharyngeal wall, bringing back a clear airway.^14,15

For obstructive sleep apnoea, which children with PS tend to have, are monitored by specialist teams such as the craniofacial team. Sometimes, medication can be given to improve breathing while asleep; however, if the obstruction is severe, there are other alternatives.¹⁶ This includes:

• Tonsillectomy

This is a surgical procedure where the tonsils are removed to improve sleep-related breathing difficulties.^16,17

• Continuous positive airway pressure (CPAP)

This is a machine which is typically used to treat sleep apnoea. It is used to keep the airways open by pushing in oxygen while the user is asleep.^16,18 Bilevel positive airway pressure (BIPAP) can also be used instead of CPAP if the user can breathe on their own but struggles to get enough oxygen in and carbon dioxide out.²⁰

A tracheostomy is a procedure which may also be used to manage the airways. This is done by the windpipe from outside the neck, and a tracheostomy tube is inserted in the opening.¹⁹ In addition, as a child gets older, they may be offered to have a midface surgery to help reposition the mid part of the face to fully treat obstructed sleep apnoea. In turn, that will also allow a tracheostomy to be removed.¹⁶

Babies and infants with upper airway obstruction can have feeding difficulties, as they struggle to keep up with feeding while getting enough oxygen, causing them to work harder and stop feeding.²¹ A nasogastric tube, which is a catheter that is put into the nose and down to the stomach to help food and medication get into the stomach for nutrition.²²

Section 5: Outlook and family support 

The aim for these interventions and advances in surgery is to maintain a good airway. This is to provide enough oxygen for a person with Pfeiffer syndrome to have an improved quality of life.¹⁶

It is important to note that after initial assessments and interventions, it is expected that the assessment is repeated until the patient can maintain a clear airway and is stable ²³

Parents must utilise support groups as they are useful in supporting families to share their experiences with children with a similar condition.²⁴ Additionally, specialists and social workers may be used to help support the family and the person with PS through the challenges of the condition.²⁵

Summary 

In summary, Pfeiffer syndrome (PS) is described as a genetic condition. This condition causes the bones in the skull to close before the brain has time to fully develop.^1,2 Since Pfeiffer syndrome is considered a craniofacial disorder, it is common that people with this syndrome develop upper airway obstruction, known as a blockage because of craniosynostosis.⁶ However, various interventions and specialists can help people with PS manage their airways. It is important that parents remember to utilise support groups, as they are useful in supporting families to share their experiences with children with a similar condition. Parents who are supported are able to be their best selves and remain informed to provide at-home help and advocate for their children or older family members in order for them to thrive.^24,25