What Is Pfeiffer Syndrome?

Introduction

In this article, we will talk you through this disease’s various causes, associated risk factors, symptoms, and possible treatments, so please read on to learn more.

Pfeiffer syndrome is a rare genetic disorder caused by a gene mutation. This syndrome causes premature fusing of the bones of the feet, hands and skull. The latter, known technically as craniosynostosis, tends to increase pressure around the brain and change the shape of the face and head.

It is an autosomal genetic disorder, meaning it requires only one copy of an atypical (mutation-containing) gene to produce the disorder. This mutation may spontaneously appear in a child’s genome or be inherited from a parent.¹

Most people who have Pfeiffer syndrome have developed it from a new mutation, and neither of their parents have a gene mutation that could have been passed on. However, a parent with Pfeiffer syndrome does have a 50% chance of passing this condition on to their child.

The mutation is in the FGFR1 and/or FGFR2 genes. Autosomal dominant genetic disorders only require a single copy of a gene to mutate to produce the disorder.²

The symptoms of pfeiffer syndrome

As we have already mentioned, Pfeiffer syndrome affects cranial (skull) and facial development. Pfeiffer syndrome can also affect the big toes and thumbs, causing abnormalities - including a widening and bending away from the other digits. There also tends to be a degree of fusing or webbing between the digits (known as syndactyly), or toes and fingers can be unusually short (brachydactyly). Other characteristics of Pfeiffer syndrome include having a beaked nose, an underdeveloped upper jaw, wide-set eyes, and a high forehead. Over 50% of children with Pfeiffer syndrome also suffer from dental problems and hearing loss.²

Pfeiffer syndrome is classified into three subtypes - Type 1, Type 2 and Type 3:

Type 1 is often referred to as Classic Pfeiffer syndrome. The majority of people with type 1 Pfeiffer syndrome have a normal life span and normal intelligence. This type is usually characterised by the symptoms mentioned above, involving sunken cheekbones, wide-set eyes and a high forehead. Type 1 sufferers also tend to experience hearing loss and a fluid buildup in the brain. Because type 1 is a milder form of Pfeiffer syndrome, individuals with this form of the disease have normal lifespans, provided the condition is treated successfully.

Type 2 and type 3 are more severe types of Pfeiffer syndrome, which often produce problems with the nervous system.⁷

In patients with type 2 or 3 Pfeiffer syndrome, the premature fusion of skull bones can limit brain growth, leading to development delay and other neurological problems. Additionally, patients sometimes experience ankylosis involving a fusion of the elbow or other joint bones, which can limit mobility. Individuals can also experience abnormalities of the airways or face, causing potentially life-threatening breathing problems. Medical specialists distinguish type 2 and type 3 Pfeiffer syndrome by detecting the presence of a cloverleaf-shaped head, which is created when the bones in the skull are fused more extensively than type 1.³

The three types of Pfeiffer’s syndrome can usually be diagnosed using imaging techniques such as X-rays or MRI scans.

What is craniosynostosis?

Craniosynostosis, otherwise referred to as synostosis, is the fusion or growing together of at least two skull bones. The types of craniosynostosis are classified according to how many bones are fused together.

The child’s craniofacial abnormalities may be apparent at birth, although sometimes they may not be obvious until the baby’s head has grown a bit larger. Medical specialists can usually identify and diagnose a craniofacial abnormality by examination alone. However, examining the child’s facial structure, brain and skull with a CT or MRI scan can support a diagnosis.³

Babies’ heads grow very quickly during the first year of their lives, and this is why Pfeiffer syndrome is likely to be diagnosed and require treatment early on. The child’s paediatrician may request frequent visits for a few months or weeks to check whether the baby’s condition will progress or not. The child could also be referred to a neurosurgeon so that they can work together with you to create the most appropriate treatment plan for your baby.

Treatment for craniofacial abnormalities

Your child’s doctor may recommend surgery to correct the physical formation of the facial bones and skull and facial bones caused by craniosynostosis in order to maximise the functioning capabilities of your child’s nervous system.

These surgeries can be intensive and complex, and often require removing, reshaping and replacing parts of your child’s skull. The reconstruction of your child’s skull may involve using plates, small screws, and wires or sutures to stabilise the bone and protect your child’s brain as they grow. The materials used are usually so small that your child cannot feel them under their skin. Paediatric craniofacial plastic surgeons may work with paediatric neurosurgeons to ensure a successful outcome.⁶

If your child’s anomaly is diagnosed before they are three months old, surgeons could have the choice of using one of many minimally invasive procedures. These are endoscopic methods, which carry lower risks of complications and of your child needing blood transfusions, which may be necessary during open surgery. Your child may also recover faster if they undergo this type of procedure.

Your child may undergo helmet therapy after having a minimally invasive operation. Helmet therapy involves your child wearing a special helmet, which gently guides their growing skull bones into position, enabling them to fuse more normally.

Your child may also experience upper airway obstruction related to secondary nasal obstruction and midface hypoplasia. Less frequently reported are anomalies of the windpipe (trachea).⁴

Outlook for people with pfeiffer syndrome

The outlook for people born with Pfeiffer syndrome varies and is dependent upon how severe their symptoms are and the impact it has on their hearing, vision and breathing. Treatment is often necessary following birth in the majority of cases, and follow-up operations are likely to be required throughout early childhood to help maintain your child’s bodily functions.⁵

Children with  Pfeiffer syndrome are likely to also have learning disabilities, although how severe these are can vary from child to child. Lots of children have long-lasting feeding and breathing problems. If your child is experiencing any of these symptoms, they may benefit from extra support at school and in their everyday lives, but they should still be able to experience a certain level of independence in their lives.

Further support and information for pfeiffer syndrome sufferers and their parents:

• Headlines – the Craniofacial Support Group –  is the most prominent organisation supporting families with young people and children affected by a craniofacial disorder in the UK. Their website address is: www.headlines.org.uk
• Changing Faces is another organisation offering support and help to anyone who has to live with a condition affecting their appearance. Their helpline telephone number is: 0845 4500 275, and their website address is www.changingfaces.org.uk
• Born a Hero - is an organisation determined to improve the lives of those with Pfeiffer syndrome and their families. They offer support and educational resources.
• The Pfeiffer Syndrome Support Group is especially for parents whose children have Pfeiffer syndrome. Parent-to-parent peer support is given, where everybody can learn about and discuss what they can expect for their children’s future. If you would like to join this group, please email mrksanb@gmail.com
• FACES - The National Craniofacial Association – offers newsletters and networking. Their website address is www.faces-cranio.org

Summary

Pfeiffer syndrome is a rare genetic disorder caused by a gene mutation, which causes premature fusing of the bones of the feet, hands and skull. The latter, known technically as craniosynostosis, tends to increase pressure around the brain and change the shape of the face and head.

It is classified into three subtypes - Type 1, the milder form, and Type 2 and Type 3, which are more severe and can limit brain growth – leading to development delay and other neurological problems – and produce potentially life-threatening breathing problems. The three types of Pfeiffer’s syndrome can usually be diagnosed using imaging techniques such as X-rays or MRI scans.

The paediatrician may recommend surgery to correct the physical formation of the facial bones and skull in order to maximise the functioning capabilities of your child’s nervous system.

Children with  Pfeiffer syndrome are likely to also have learning disabilities, although how severe these are can vary from child to child. Lots of children have long-lasting feeding and breathing problems. There are many organisations and groups dedicated to improving the lives of children living with this syndrome and their parents, which offer information, advice and support.