A rare birth defect that affects approximately 1 in 100,000 children, Pfeiffer syndrome is primarily a genetic condition that leads to craniosynostosis (premature fusion of the skull bones) of multiple skull sutures but commonly the coronal sutures. As a result, facial deformity, sleep apnea, and other serious issues can develop. Dr. Eric Payne, our experienced craniofacial plastic surgeon, utilizes some of the most advanced techniques and technology available to diagnose and treat Pfeiffer syndrome. Committed to the health and well-being of our patients, our extensively trained medical team emphasizes excellence in care and a compassionate approach that addresses the full spectrum of concerns associated with this disorder.
If you would like additional information about Pfeiffer syndrome, or if you want to schedule a consultation with Dr. Payne, please contact our office today.
What is Pfeiffer syndrome?
Pfeiffer syndrome is a genetic, heritable disorder that is thought to be linked to the FGFR-1 and FGFR-2 genes. In addition to other signs, this condition causes multisuture craniosynostosis of the coronal sutures (the skull joints that run across the top of the head from ear to ear), which lock into position too early in development. As a result, the growing brain must push outward in other directions, causing deformity of the skull and face. Other signs of Pfeiffer syndrome include deformity of the eyes, midface, and hands or feet. In most cases, Pfeiffer syndrome will be diagnosed at birth, and genetic testing can be used to confirm the results of the physical examination. As every child’s needs, anatomy, and experience is unique, Dr. Payne will customize the treatment plan to best suit the individual and their family and to optimize results.
How does Pfeiffer syndrome occur?
Although Pfeiffer syndrome can spontaneously occur as a result of a sudden, unexpected mutation, the reason for this is unknown. More commonly, Pfeiffer syndrome will be inherited from the mother or the father. The disorder is not the result of vitamin deficiency, poor diet, or any other action or inaction by the parents.
Can Pfeiffer syndrome be passed on through the family?
As a heritable disorder, Pfeiffer syndrome can be passed on through the family. The condition is an autosomal dominant disorder, which means that if either parent has the gene it can be transferred to the child. It’s important to note, a parent with Pfeiffer syndrome has a 50/50 chance of passing it on to their child, and each child they conceive will have a 50 percent chance of developing the birth defect. If the mutation occurred spontaneously, and there is no family history, the individual with Pfeiffer syndrome can still transmit the syndrome to their children. As a result, many patients with Pfeiffer syndrome speak with a geneticist when deciding whether to begin a family.
What are the signs and symptoms of Pfeiffer syndrome?
There are three types of Pfeiffer syndrome, known as Type 1, Type 2, and Type 3, and each one differs in form and severity of the characteristics. In general, all patients with Pfeiffer syndrome will experience many similar concerns. The primary cause of most of the facial deformities will be due to the fusion of the cranial sutures. Pfeiffer syndrome typically involves the premature unification of the coronal sutures, but other skull joints can also fuse too early. The FGFR genes also affect the hands and toes, and individuals with this defect may experience webbing between the fingers (syndactyly), short thumbs and big toes (brachydactyly), and issues with knee and elbow joints.
Type 1 is the result of mutation of either the FGFR-1 or FGFR-2 gene. In addition to the fusion of the cranial sutures, individuals with classic Pfeiffer syndrome, as it’s often known, will typically have recessed cheek bones and some abnormalities of the fingers and/or toes. This is the mildest version, and children with this condition will usually have normal neurological development and a normal life span. Individuals with this type of Pfeiffer syndrome can develop hydrocephalus, or increased pressure in the brain, and hearing loss.
Type 2 is more advanced and only involves the FGFR-2 gene. This form of Pfeiffer syndrome is recognizable by the head’s “cloverleaf” shape, a deformity caused by the extensive fusing of almost all of the skull joints. Other indicators include significant bulging of the eyes, which can lead to severe visual problems, finger and toe defects, a retruded midface and jaw, and ankylosis, or fusion, of the elbow and knee joints. Furthermore, problems with the nervous system can arise, and many children with Type 2 will experience intellectual development delays. Increased pressure on the brain, known as hydrocephalus, is the most concerning issue with Type 2, leading to early skull surgery to release the pressure.
Type 3 shares many similarities with Type 2, although the “cloverleaf”-shaped head does not occur in this type. As with Type 2, this type of Pfeiffer syndrome involves the FGFR-2 gene, and individuals with this more severe case may also experience neurological delays and intellectual impairment. Additionally, most or all of the common signs can occur, including bulging eyes, a sunken midface and nose, recessed jaw, extremity deformities, as well as visual and dental problems.
The most common signs and symptoms of Pfeiffer syndrome include:
- Disproportionately wide head and high forehead
- Sunken or retruded (pushed back) midface, causing recessed upper jaw
- Small nose, with a low nasal bridge
- Breathing difficulties
- Hypertelorism (wide-set eyes)
- Small eye sockets, causing bulging, prominent eyes (proptosis)
- Hearing loss
- Visual problems
- Dental problems, such as severe tooth overcrowding
- Broad, short thumbs and big toes
- Syndactyly (webbing or fusion of the fingers)
- Brachydactyly (shortened fingers)
If there is an opportunity to reduce the likelihood of intellectual impairment occurring, Dr. Payne will explain the options to you and develop an individualized treatment plan that can offer the best possible outcome. Our goal is provide exceptional care and the highest-quality treatment available during this difficult time.
What are the treatment options?
Treatment may begin soon after diagnosis, depending on the severity of signs and whether your baby is experiencing problems eating or breathing. Pfeiffer syndrome affects many different systems, and addressing each concern will require the skill of an experienced multispecialty team. Multiple operations may be necessary over the course of several years to achieve the optimal outcome. Initially, surgery to halt cranial fusion and expand the skull to allow room for normal growth typically will be performed between the age of nine to twelve months of your child’s life.
Surgery on the skull (called cranial vault remodeling) will involve disconnecting the fused cranial sutures and placing them in a position that allows the brain to grow and expand more normally. Plates, screws, and bone grafts are often used to secure the skull bone into the new location. If facial malformation makes breathing difficult, a tracheostomy may be performed and a tube placed in the windpipe to open the airway. Milder cases of Pfeiffer syndrome may only require oral intubation or nothing at all. A second surgery on the jaw and midface (called distraction osteogenesis of the jaw) is designed to pull these structures into a more normal position and further open the airway. If the trachea (windpipe) is sufficiently clear following reconstruction, the tracheostomy tube may be removed.
Once the child is a few years older, facial and nasal reconstruction can modify the shape and position of the nose, cheekbones, and midface using bone, cartilage, and other tissue grafts. A higher than normal palate can sometimes occur in Pfeiffer syndrome patients, and the upper jaw may be modified to correct this concern. Braces and other orthodontic treatment may be needed to address severe teeth overcrowding and other dental concerns. Furthermore, if webbing (syndactyly) is present on the fingers and/or toes, the affected areas can be separated and repaired using skin grafts.
What is the recovery process like?
Every child is unique, as is their treatment plan. As a result, the recovery process will vary depending on the particulars of their experience. After the initial surgery is complete, your child will stay for a short period, usually one-to-two days, in the Pediatric Intensive Care Unit (PICU). He or she will then remain in the hospital for several days, depending on their unique rate of healing. We understand that a hospital stay is scary for a child and believe that a home environment is always easier for child’s recovery than spending prolonged periods in the hospital. Therefore, we will do everything possible to speed the recovery process. If jaw surgery is performed, your child will require liquids for feedings at first and then provided a soft-food diet until the jaw is fully healed. Pfeiffer syndrome often requires follow-up procedures to enhance your child’s progress and results, and Dr. Payne will discuss the details of your treatment plan as they develop. If you have any questions at any point, we can provide additional information and support as needed throughout treatment.
Dealing with Pfeiffer syndrome can be difficult, but we are here to help. Contact us today to learn more about this condition or to schedule a consultation with Dr. Payne.