What is Pfeiffer syndrome?
Pfeiffer syndrome is a rare congenital condition that occurs in 1 of 100,000 newborn babies with a 1:1 male to female ratio. It can be inherited in an autosomal dominant fashion from a parent with Pfeiffer syndrome, or be due to a fresh genetic mutation. A parent with Pfeiffer syndrome has a 50% chance of passing the condition to a child. The diagnosis is associated with increasing paternal age. The mutation occurs in the gene for fibroblast growth factor receptor 1 or 2 (FGFR 1 or 2).
What are the symptoms of Pfeiffer syndrome?
The skull is affected by craniosynostosis, or premature fusion of the coronal ring. This results in an abnormal head shape. The appearance is one of a tall and short (from front to back) head. This is known as turribrachycephaly. Variable involvement of the cranial base and midface sutures may result in flattening or retrusion of the midface. As a result, the eyes may bulge out and the child may develop an underbite and an open bite. Children with Pfeiffer syndrome typically have broad and medially deviated thumbs and great toes, with partial soft tissue syndactyly, or webbing, of the hands and feet. Hearing loss is common in patients with this diagnosis.
There are three distinguishable clinical subtypes of Pfeiffer syndrome:
Type I: This is the most common and survivable form of Pfeiffer syndrome. Craniosynostosis, limb abnormalities and variable midface involvement are usually noted. Normal or near-normal intelligence is often found.
Type II: Multisutural craniosynostosis causes a cloverleaf skull shape abnormality (Kleeblattschädel deformity). Eye bulging, midface flattening, limb abnormalities (broad thumbs and toes, syndactyly and elbow ankylosis) and mental impairment are more severe.
Type III: This type of Pfeiffer syndrome has similar features of Type II but does not include the cloverleaf skull abnormality.
How is Pfeiffer syndrome diagnosed?
Examination of your child's skull, face and body will help guide your child's doctor at Children's Hospital Colorado towards a correct diagnosis. You will be seen by a geneticist to test whether your child has the genetic mutation that causes Pfeiffer syndrome. A CT scan and/or an MRI will be used to diagnose the changes in the skull that are associated with Pfeiffer syndrome.
How is Pfeiffer syndrome treated?
A thorough evaluation by the experts at the Craniofacial Center will be undertaken. Your child may also see specialists in consultation to better diagnose and treat his or her particular condition(s). Together we will create a comprehensive treatment plan for your child.
The main concerns in the early treatment planning for children with Pfeiffer syndrome have to do with the brain, vision and breathing.
The premature fusion of multiple sutures in the skull may cause restriction on the growing brain. This constriction can cause increased intracranial pressure. In order to release the pressure, surgery on the skull may need to be undertaken within the first year. This may be in the form of cranial remodeling or distraction osteogenesis, depending on the specific needs of the child.
Surgeries to protect the eyes may be needed. These may include tarsorraphy of the lids (a procedure in which the eyelids are partially sewn together to narrow the opening) or fronto-orbital advancement of the bones of the forehead and upper eyes.
Some children with difficulty breathing will require a tracheostomy. As the child grows, it may be necessary to perform a LeFort III or Monobloc in order to improve the form and function of the face. These procedures can positively affect the ability to protect the eyes and breathe while sleeping. The timing of these surgeries, if needed, is dictated by the severity of your child's symptoms. In late adolescence, your child may require orthognathic surgery to improve facial balance and his or her bite.
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